Hereditary Hemochromatosis: Diagnosis, HFE Mutations, and Treatment | Clinique Omicron<\/title>\n<meta name=\"description\" content=\"Hereditary hemochromatosis is iron overload related to HFE mutations. Ferritin, transferrin saturation, phlebotomies, and management in Quebec.\">\n<meta name=\"keywords\" content=\"h\u00e9mochromatose h\u00e9r\u00e9ditaire, mutation HFE C282Y, ferritine \u00e9lev\u00e9e, saturation transferrine, surcharge en fer, phl\u00e9botomie h\u00e9mochromatose, h\u00e9mochromatose Qu\u00e9bec, diagnostic h\u00e9mochromatose\">\n<link rel=\"preconnect\" href=\"https:\/\/fonts.googleapis.com\">\n<link href=\"https:\/\/fonts.googleapis.com\/css2?family=Cinzel:wght@600&family=Poppins:wght@400;500;600;700&display=swap\" rel=\"stylesheet\">\n<style>\n.co-wrap * { font-family: 'Poppins', sans-serif; box-sizing: border-box; }\n.co-wrap { max-width: 1100px; margin: 0 auto; padding: 30px 0 60px; }\n.co-label { font-family: 'Cinzel', serif; font-size: 14px; font-weight: bold; letter-spacing: 1px; text-transform: uppercase; color: #4D6577; margin-bottom: 14px; display: block; }\n.co-wrap h1 { font-size: 32px; font-weight: 500; color: #323C52; margin: 0 0 22px; line-height: 1.2; }\n.co-intro { font-size: 16px; line-height: 1.75; color: #4D6577; margin-bottom: 36px; padding-bottom: 32px; border-bottom: 1px solid rgba(77,101,119,.2); }\n.co-wrap h2 { font-size: 20px; font-weight: 600; color: #323C52; margin: 32px 0 12px; }\n.co-wrap p { font-size: 15px; color: #4D6577; line-height: 1.7; margin-bottom: 14px; }\n.co-list { list-style: none; padding: 0; margin: 12px 0 24px; }\n.co-list li { font-size: 15px; color: #4D6577; padding: 10px 14px 10px 38px; margin-bottom: 8px; border-radius: 6px; position: relative; background: rgba(77,101,119,.06); border-left: 3px solid #4D6577; }\n.co-list li::before { content: \"\u2713\"; position: absolute; left: 12px; font-weight: 700; color: #4D6577; }\n.co-table { width: 100%; border-collapse: collapse; margin: 14px 0 22px; font-size: 14px; border-radius: 8px; overflow: hidden; table-layout: fixed; }\n.co-table thead tr { background: #323C52; color: #fff; }\n.co-table thead th { padding: 11px 16px; text-align: left; font-weight: 600; font-size: 13px; }\n.co-table tbody tr:nth-child(even) { background: rgba(77,101,119,.06); }\n.co-table tbody tr:nth-child(odd) { background: #fff; }\n.co-table td { padding: 10px 16px; color: #4D6577; border-bottom: 1px solid rgba(77,101,119,.12); font-size: 14px; vertical-align: top; }\n.co-table td:first-child { font-weight: 600; color: #323C52; }\n.co-infobox { display: flex; gap: 12px; background: rgba(77,101,119,.06); border-radius: 8px; border-left: 4px solid #4D6577; padding: 14px 18px; margin: 18px 0 28px; font-size: 14px; color: #4D6577; line-height: 1.65; }\n.co-infobox .ico { font-size: 18px; flex-shrink: 0; }\n.co-urgence { background: #fff8f8; border-left: 5px solid #c0392b; border-radius: 6px; padding: 20px 26px; margin: 24px 0 32px; }\n.co-urgence .co-urgence-titre { font-size: 13px; font-weight: 700; color: #c0392b; letter-spacing: 1.5px; text-transform: uppercase; margin-bottom: 10px; }\n.co-urgence p { color: #5a2020; font-size: 14px; margin: 0 0 10px; line-height: 1.7; }\n.co-urgence p:last-child { margin-bottom: 0; }\n.co-disclaimer { font-size: 13px; color: #8a9aaa; font-style: italic; border-top: 1px solid rgba(77,101,119,.15); padding-top: 24px; margin-top: 40px; line-height: 1.6; }\n<\/style>\n<\/head>\n<body>\n<div class=\"co-wrap\">\n <span class=\"co-label\">Hepatology & Internal Medicine & Family Medicine & Medical Genetics<\/span>\n <h1>Hereditary hemochromatosis<\/h1>\n\n <div class=\"co-intro\">\n Hereditary hemochromatosis (HH) is the most common autosomal recessive genetic disease in populations of Northern European origin, characterized by excessive intestinal absorption of dietary iron leading to its progressive accumulation in target organs - liver, pancreas, heart, joints, pituitary gland, skin - and irreversible organ damage if left untreated. The most frequent form is type 1 hemochromatosis, linked to mutations of the HFE gene on chromosome 6p: the C282Y mutation (cysteine \u2192 tyrosine substitution at position 282) is responsible for 80-85 % of clinical cases in Caucasian populations, and the H63D mutation constitutes a variant of lower penetrance, clinically significant especially in composite C282Y\/H63D heterozygosity. Hemochromatosis is based on dysregulation of hepcidin - a hepatic peptide hormone central to iron metabolism - whose insufficient production or receptor insensitivity prevents regulation of ferroportin, keeping intestinal iron absorption and release from macrophages at inappropriate levels. Clinical penetrance is incomplete: only 10-30 % of C282Y homozygotes develop clinically expressive disease, with women protected by menstrual discharge until menopause. Diagnosis is based on transferrin saturation (TS) - the first marker to rise (>45 %) - and ferritinemia - a marker of iron reserves - confirmed by HFE genotyping. Therapeutic phlebotomy (bloodletting) is the reference treatment: simple, effective, well-tolerated and inexpensive, it normalizes iron reserves and prevents organic complications if started before irreversible lesions set in.\n <\/div>\n\n <h2>Pathophysiology, genetics, and clinical presentation<\/h2>\n <ul class=\"co-list\">\n <li><strong>Iron metabolism, role of hepcidin, and mechanism of overload in HH:<\/strong> normal iron metabolism: intestinal absorption (duodenum + proximal jejunum): 1-2 mg\/d (compensates for losses) out of 10-20 mg absorbed \u2192 transmembrane transport: DMT1 (divalent metal transporter 1) \u2192 internalization in enterocyte \u2192 ferroportin (FPN1) \u2192 export to circulation \u2192 oxidation by hephaestine \u2192 transferrin binding (apotransferrin \u2192 monoferric \u2192 diferric transferrin) \u2192 storage: intracellular ferritin + hemosiderin \u2192 plasma transferrin \u2192 transferrin receptor (TfR1) \u2192 endocytosis in erythroblasts (erythropoiesis) + hepatocytes \u2192 recycling of senescent RBCs by splenic macrophages: 25 mg\/d recovered \u2192 95 % of circulating iron comes from macrophagic recycling \u2192 intestinal absorption = small fraction; hepcidin - conductor of iron metabolism: 25 amino acid peptide + synthesized by liver \u2192 binds to ferroportin \u2192 induces its internalization and degradation \u2192 blocks iron export from : enterocytes + macrophages + hepatocytes \u2192 hepcidin regulation: increased by: iron overload (via BMP6-BMPR\/HJV axis) + inflammation (IL-6 \u2192 STAT3) \u2192 decreased by: iron deficiency + hypoxia (HIF-2\u03b1) + increased erythropoiesis (GDF15 + ERFE - erythroferrone) \u2192 HH type 1 (HFE) mechanism: normal HFE protein binds transferrin receptor TfR1 and TfR2 \u2192 sensing iron saturation \u2192 signaling to BMP6\/HJV \u2192 hepcidin production \u2192 in C282Y HH: mutated HFE protein does not normally associate with TfR2 \u2192 signaling defect \u2192 insufficient hepcidin production \u2192 constitutionally active ferroportin \u2192 unregulated intestinal absorption \u2192 permanent macrophagic release \u2192 progressive accumulation of iron \u2192 200-500 mg\/year of excess iron \u2192 total stores up to 20-50 g (normal: 3-4 g) \u2192 oxidative stress damage: Fe\u00b2\u207a + H\u2082O\u2082 \u2192 hydroxyl radicals (Fenton reaction) \u2192 lipid peroxidation + DNA damage + fibrosis \u2192 cirrhosis + CHC + diabetes + cardiomyopathy; types of hereditary hemochromatosis: type 1 (HFE): C282Y\/C282Y (most common in Northern Europe - prevalence 1\/200 to 1\/300 in subjects of Northern European ancestry) + type 2A (HJV - hemojevelin): juvenile hemochromatosis \u2192 severe overload before age 30 + heart disease + hypogonadism \u2192 rare + type 2B (HAMP - hepcidin): same juvenile phenotype \u2192 very rare + type 3 (TFR2): transferrin receptor 2 mutation \u2192 phenotype similar to type 1 but more severe \u2192 rare + type 4A\/4B (SLC40A1 - ferroportin): autosomal dominant inheritance \u2192 type 4A: loss-of-function ferroportin \u2192 accumulation in macrophages + few organ complications \u2192 type 4B: hepcidin-resistant ferroportin \u2192 phenotype similar to type 1<\/li>\n <li><strong>Epidemiology, HFE mutation genetics, and clinical penetrance:<\/strong> epidemiology: HFE type 1 hemochromatosis: the most common autosomal recessive disease in populations of Celtic (Irish + Scottish + Welsh) + Northern European origin \u2192 prevalence of C282Y homozygotes: 1\/200-1\/400 in Ireland + 1\/300-1\/400 in Canadian populations of Northern European origin \u2192 C282Y heterozygotes: 1\/8 to 1\/10 \u2192 healthy carriers \u2192 H63D: widespread (15-20 % of the general population of European ancestry in heterozygosity) \u2192 composite C282Y\/H63D heterozygosity (2-3 % of the population) \u2192 minor clinical phenotype in the majority \u2192 S65C: rare mutation + little clinical significance; clinical penetrance of HH C282Y\/C282Y: Allen 2008 - NEJM (HealthIron Study - Australia + UK - 31,192 subjects): homozygous C282Y \u2192 transferrin saturation elevated in 75 % of men + 60 % of women \u2192 ferritin elevated in 75 % of men + 40 % of women \u2192 clinically expressive disease (symptoms + organ damage): 28 % of homozygous men + 1 % of homozygous women \u2192 conclusion: low clinical penetrance \u2192 the vast majority of C282Y homozygotes will never develop symptomatic disease \u2192 factors modulating penetrance: sex (women protected by menstrual discharge) + alcohol consumption (potentiates overload + fibrosis) + modifying polymorphisms (SLC11A2 + TFR2 + CYBRD1 + associated hepcidinopathies) + dietary iron intake + frequent blood donations (reduced reserves) + co-morbidities (hepatic steatosis + hepatitis C \u2192 accelerated fibrosis); H63D mutations - clinical significance: homozygous H63D\/H63D: slight transferrin saturation excess \u2192 very rare clinical overload \u2192 does not require specific monitoring if ST normal + composite heterozygous H63D\/C282Y: ST often elevated + elevated ferritin possible \u2192 mild to moderate disease \u2192 clinical overload in <1 % \u2192 HFE genotyping + martial workup \u2192 MRI if elevated ferritin + single heterozygous H63D: carrier \u2192 no significant overload \u2192 non-systematic family screening required; population screening and family screening: mass screening: not universally recommended (USPSTF \u2192 insufficient evidence) \u2192 transferrin saturation test if clinical suspicion (unexplained fatigability + incidental elevated ferritin) + family screening: recommended for 1st degree relatives of a C282Y\/C282Y proposer \u2192 ST + ferritin assay + HFE genotyping \u2192 if siblings \u2192 25 % risk of being homozygous C282Y \u2192 Health Canada + MSSS: screening of siblings of an index case \u2192 family screening program<\/li>\n <li><strong>Clinical manifestations \u2013 target organs and timeline of overload:<\/strong> chronology of accumulation and manifestations: stage 0: genetic predisposition \u2192 homozygous C282Y \u2192 no overload yet + stage 1: inconsequential iron overload \u2192 high ST + normal ferritin \u2192 asymptomatic \u2192 age: 20-40 years \u2192 stage 2: increasing overload \u2192 high ferritin \u2192 nonspecific symptoms \u2192 stage 3: organic overload \u2192 hepatic + articular + endocrine involvement \u2192 hepatic fibrosis \u2192 stage 4: irreversible complications \u2192 cirrhosis + diabetes + cardiomyopathy + hypogonadism \u2192 age: >40-50 years; clinical manifestations by organ: liver (most affected organ): hepatomegaly (1st clinical sign) \u2192 moderate hepatic cytolysis (ALT\/AST 2-4\u00d7 normal) \u2192 progressive fibrosis \u2192 cirrhosis \u2192 CHC (risk \u00d720 to 200 vs. general population in cirrhosis on HH) \u2192 Kowdley 2005 - Gastroenterology: HCC in 30 % of untreated homozygous C282Y cirrhotics + HCC risk persists even after normalization of iron stores if cirrhosis is already established; joints (chondrocalcinosis arthropathy): affected in 40-75 % of symptomatic cases \u2192 metacarpophalangeal joints (MCP) 2 and 3 +++ (\u00abpainful handshake\u00bb) \u2192 pathognomonic when bilateral + early + calcium pyrophosphate deposits (CPDD) \u2192 radiological chondrocalcinosis \u2192 hip + knee + lumbar \u2192 chronic joint pain \u2192 arthropathy is poorly reversible under phlebotomy \u2192 panaceas; pancreas: \u00abhemochromatosis\u00bb type diabetes (bronze diabetes) \u2192 iron deposits in \u03b2 cells + acinar cells \u2192 endocrine insufficiency (diabetes + hyperglycemia) + exocrine (malabsorption) \u2192 iron is directly toxic to \u03b2 cells \u2192 partial improvement under phlebotomies if not cirrhotic; heart: dilated cardiomyopathy + rhythm disorders (AF + AV block) + heart failure \u2192 iron deposits in cardiomyocytes \u2192 systolic and diastolic dysfunction \u2192 Strohmeyer 1988 - Medicine: cardiac involvement in 15 % of symptomatic HH \u2192 reversible under treatment if started before decompensation; endocrine glands: hypogonadotropic hypogonadism (pituitary deposits \u2192 gonadotropic insufficiency \u2192 LH + FSH deficiency \u2192 secondary hypogonadism \u2192 impotence + amenorrhea + testicular atrophy + osteoporosis) + hypothyroidism (thyroid deposits) + adrenal insufficiency (rare) + skin: melanoderma - tanned or slate-gray complexion (melanin deposits + hemosiderin \u2192 melanocyte activation) \u2192 \u00abcoppery\u00bb complexion \u2192 classic triad: cirrhosis + diabetes + tanning = Trousseau's \u00abdiab\u00e8te bronz\u00e9\u00bb (1865) but late stage avoided if detected early <\/ul>\n\n <h2>Biological diagnostics, imaging, and treatment<\/h2>\n <table class=\"co-table\">\n <colgroup><col style=\"width:200px;\"><col style=\"width:42%;\"><col><\/colgroup>\n <thead>\n <tr><th>Step \/ processing<\/th><th>Methodology and Interpretation<\/th><th>Evidence and follow-up<\/th><\/tr>\n <\/thead>\n <tbody>\n <tr>\n <td>Biological iron assessment \u2014 transferrin saturation and ferritin<br><small style=\"font-weight:400;color:#7a8fa0;\">ST >45 % \u2014 ferritin \u2014 serum iron \u2014 transferrin \u2014 fasting \u2014 diagnostic algorithm<\/small><\/td>\n <td>Transferrin saturation (ST) - first warning marker: ST = (serum iron \/ CTLF) \u00d7 100 = (serum iron \/ transferrin \u00d7 25.1) \u00d7 100 \u2192 represents filling of transferrin binding sites \u2192 normal: male 20-45 % + female 16-45 % \u2192 HH warning threshold: ST \u226545 % fasting (in the morning, before any meal) \u2192 ST is the best early marker of HH \u2192 rises before ferritin (stage 1) \u2192 sensitivity for C282Y\/C282Y: 90-95 % \u2192 limited specificity (false positives: alcoholic cirrhosis + acute hepatitis + hemolytic anemia) \u2192 sampling condition: fasting in the morning \u2192 serum iron increases by 20-30 % postprandially \u2192 false positives reduce; ferritinemia: marker of total iron stores \u2192 normal: male 30-300 \u00b5g\/L + female 15-200 \u00b5g\/L \u2192 elevated ferritin in HH: correlates approximately with hepatic iron stores \u2192 ferritin >1,000 \u00b5g\/L \u2192 high risk of significant hepatic fibrosis (Guyader 1998 - Gastroenterology) + ferritin >2,000-3,000 \u00b5g\/L \u2192 frequent cirrhosis \u2192 BUT: ferritin is an acute-phase reagent \u2192 very numerous false positives: inflammatory syndrome + metabolic syndrome + NAFLD\/NASH + alcoholism + hepatic cytolysis \u2192 isolated elevated ferritin without elevated ST often points to inflammatory syndrome or fatty liver rather than HH \u2192 recommended diagnostic algorithm (EASL 2010 + CASL 2018 + SCC): step 1: fasting ST + ferritin + CBC + liver workup \u2192 if ST \u226545 % \u2192 step 2: HFE genotyping (C282Y + H63D) \u2192 if C282Y\/C282Y or C282Y\/H63D \u2192 complete workup + treatment decision \u2192 if non-HFE and ST elevated \u2192 liver MRI + liver biopsy if indication \u2192 other biochemical markers of martial workup: serum iron (normal 10-28 \u00b5mol\/L) + CTLF (total iron binding capacity \u2192 normal 45-80 \u00b5mol\/L \u2192 decreases in overload) + saturation coefficient = serum iron \/ CTLF \u00d7 100 \u2192 glycosylated ferritin (used in some centers - glycosylated fraction <20 % \u2192 iron overload; normal \u226550 %) \u2192 erythrocyte zinc protoporphyrin (ZPP): increases in iron deficiency \u2192 normal in HH (iron available for erythropoiesis) \u2192 useful for differentiating HH from martial deficiency in case of doubt; complete hepatogram before treatment: ALT + AST + GGT + total and conjugated bilirubin + PT + albumin + CBC (thrombocytopenia \u2192 portal hypertension?) + creatinine + blood glucose + HbA1c + TSH + lipid panel<\/td>\n <td>Interpretation of results in clinical practice - common situations: ST \u226545 % + elevated ferritin + C282Y\/C282Y \u2192 confirmed HFE hemochromatosis \u2192 organ involvement workup \u2192 phlebotomy treatment \u2192 ST \u226545 % + elevated ferritin + C282Y\/H63D \u2192 composite heterozygosity \u2192 liver MRI to quantify iron \u2192 if CHI (hepatic iron concentration) elevated \u2192 treatment + ST \u226545 % + normal ferritin + C282Y\/C282Y \u2192 early stage 1 \u2192 annual monitoring + avoidance of aggravating factors + normal ST + elevated ferritin \u2192 systemic inflammation or NAFLD\/metabolic syndrome much more likely than HH \u2192 inflammatory workup (CRP + fibrinogen) + liver workup + insulin resistance index \u2192 eliminate secondary cause as a priority + elevated ST + non-C282Y \u2192 non-HFE hemochromatosis \u2192 liver MRI \u2192 biopsy if necessary \u2192 genetics (HJV + HAMP + TFR2 + SLC40A1) \u2192 referral to internal medicine or hepatology ; indications for liver biopsy in HH (EASL 2010): indications: ferritin >1,000 \u00b5g\/L + elevated ALT + doubt about cirrhosis \u2192 PURPOSE: liver MRI has largely replaced biopsy for iron quantification \u2192 biopsy still useful for: assess degree of fibrosis (Metavir) + identify liver comorbidity (NASH + alcohol + HCV) + if non-HFE with inconclusive genetics \u2192 Brunt 2008 - American Journal of Gastroenterology: Perls index (Prussian blue staining) + Deugnier score for histological quantification of liver iron<\/td>\n <\/tr>\n <tr>\n <td>Liver MRI - Non-invasive quantification of liver iron<br><small style=\"font-weight:400;color:#7a8fa0;\">R2* \u2014 T2* \u2014 CHI \u2014 FibroScan \u2014 biopsy replacement<\/small><\/td>\n <td>Hepatic MRI for iron quantification - non-invasive reference method: physical principle: iron is paramagnetic \u2192 disturbs the local magnetic field \u2192 shortens T2 and T2* relaxation time \u2192 hypointense (black) MRI signal on T2* sequences \u2192 quantification: R2* (= 1\/T2*) \u2192 correlates with hepatic iron concentration (CHI) \u2192 reliable, reproducible measurement; sequences and methods used: R2* MRI (FerriScan or equivalent): reference method \u2192 CHI calculated in mg Fe\/g dry liver \u2192 normal: 7 mg Fe\/g \u2192 correlates with ferritinemia but more precise (not influenced by inflammation) \u2192 Gandon 2004 - Lancet : validation of R2 MRI* vs liver biopsy \u2192 excellent correlation (r = 0.93) \u2192 R2 MRI (Ferriscan method - FerriScan SA): FDA cleared + Health Canada \u2192 used as reference in clinical trial protocols + splenic and pancreatic involvement: iron accumulates in the liver and pancreas in HH but NOT in the spleen (the spleen accumulates iron in diseases with macrophagic overload - thalassemia + transfusions \u2192 in HH: absence of splenic overload is a distinctive sign of primary vs. secondary overload by transfusion); indication for liver MRI in HH: if C282Y\/C282Y or C282Y\/H63D + ferritin >300 \u00b5g\/L in men or >200 \u00b5g\/L in women \u2192 quantify CHI + assess fibrosis + rule out HCC \u2192 if ferritin <300 \u00b5g\/L \u2192 MRI not essential \u2192 start phlebotomies directly \u2192 if non-HFE genotype with confirmed overload \u2192 MRI essential to distinguish: non-HFE HH + secondary transfusion overload (splenic + medullary involvement) + metabolic syndrome (moderate overload + steatosis); hepatic elastography (FibroScan) in HH: measures hepatic stiffness in kPa \u2192 assesses fibrosis \u2192 BUT: iron overload itself increases stiffness \u2192 usual FibroScan thresholds less reliable if CHI very high \u2192 interpret with caution \u2192 maximum value under treatment (after iron depletion) more reliable for assessing residual fibrosis<\/td>\n <td>HCC screening in hemochromatosis - risk and surveillance: HCC risk in HH: Kowdley 2005 - Gastroenterology: C282Y\/C282Y cirrhotics \u2192 HCC in 30 % over 10 years \u2192 risk \u00d720-200 \u00d7 general non-cirrhotic population \u2192 HCC in HH occurs almost exclusively in cirrhotics \u2192 iron depletion prior to cirrhosis reduces risk \u2192 HCC risk persists after depletion if cirrhosis is established \u2192 HCC screening recommended (EASL + AASLD + SCC): in all cirrhotic HH \u2192 abdominal ultrasound + AFP \u2192 every 6 months \u2192 even if ferritin normalized by phlebotomies + if non-cirrhotic + normalized ferritin + C282Y\/C282Y \u2192 very low HCC risk \u2192 less intensive monitoring + HCC aggravating factors on HH: alcohol + HCV + HBV + steatosis + diabetes \u2192 treat simultaneously; cardiac repercussions - initial assessment: ECG (rhythm disorders + BAV) + transthoracic echocardiography: LVEF + diastole + dilated cardiomyopathy \u2192 if severe cardiac involvement \u2192 cardiac MRI: quantification of myocardial iron \u2192 cardiac T2* <20 ms \u2192 significant cardiac overload \u2192 priority treatment (risk of sudden death) \u2192 in HH type 1: cardiac involvement less severe than in juvenile hemochromatoses type 2 + endocrine repercussions: hormone assessment if symptoms: testosterone + LH + FSH + TSH + basal cortisol \u2192 replacement therapy if hypogonadism + osteoporosis (DXA) + arthropathy: hand X-rays (chondrocalcinosis + MCP 2-3 joint pinching)<\/td>\n <\/tr>\n <tr>\n <td>Therapeutic phlebotomy \u2014 standard treatment<br><small style=\"font-weight:400;color:#7a8fa0;\">Phlebotomy \u2014 450 mL = 200\u2013250 mg Fe \u2014 induction phase \u2014 maintenance phase \u2014 targets \u2014 monitoring<\/small><\/td>\n <td>Principle and rationale of phlebotomies: each 450 mL bloodletting removes 200-250 mg of iron (contained in RBCs) \u2192 production of new RBCs mobilizes iron from hepatic reserves and macrophages \u2192 progressive depletion of iron reserves \u2192 1 phlebotomy\/week \u2192 depletion of 1-2 g Fe\/month \u2192 for a patient with 20-30 g excess iron reserves \u2192 duration of induction phase: 2-3 years \u2192 protective mechanism: reduction in hepatic oxidative stress \u2192 slowing or regression of fibrosis \u2192 reduced risk of HCC \u2192 improvement in cardiomyopathy and diabetes if not irreversible; induction phase (depletion): weekly 450 mL phlebotomies \u2192 monitoring: ferritin every 4-6 bleeds \u2192 CBC before each phlebotomy (hemoglobin \u226511-12 g\/dL before each bleed) \u2192 end-of-induction goal: ferritin \u226450 \u00b5g\/L (some centers aim for \u226420-30 \u00b5g\/L) \u2192 transferrin saturation <45 % \u2192 variable duration depending on initial reserves: ferritin 500 \u00b5g\/L \u2192 ~6-12 months + ferritin 3,000 \u00b5g\/L \u2192 ~2-4 years \u2192 Brissot 2011 - European Journal of Gastroenterology and Hepatology: reversibility of lesions under phlebotomy: fibrosis (early stages) \u2192 improvement or regression + cardiomyopathy \u2192 often reversible if not advanced + diabetes \u2192 partial improvement + arthropathy \u2192 LITTLE reversible (least improved by treatment) + melanoderma \u2192 slow improvement + hypogonadism \u2192 partially reversible + CHC \u2192 reduced risk if cirrhosis prevented; maintenance phase: once ferritin \u226450 \u00b5g\/L \u2192 reduce phlebotomy frequency \u2192 4-6 times\/year \u2192 often 1 phlebotomy every 2-3 months \u2192 for life (disease is genetic + absorption remains excessive) \u2192 maintenance monitoring: ferritin + CBC + ST \u2192 every 3 months for the first year \u2192 then semi-annually \u2192 maintenance ferritin target: 50-100 \u00b5g\/L (some guides: 50-150 \u00b5g\/L) \u2192 do not aim for martial deficiency (ferritin <12 \u00b5g\/L) \u2192 risk of anemia + tolerance of phlebotomies: generally excellent \u2192 rare side effects: mild post-phlebotomy fatigue + lipothymia \u2192 prevent with hydration before and after + in some centers \u2192 therapeutic blood donation: phlebotomies can be performed in blood banks (H\u00e9ma-Qu\u00e9bec) \u2192 blood can be used for transfusion under certain conditions (\u00abautologous\u00bb blood or pool according to local rules)<\/td>\n <td>Evidence on the efficacy of phlebotomies and prognosis under treatment: Niederau 1996 - NEJM: cohort of 251 patients with HH treated with phlebotomies \u00d7 14 years \u2192 normal survival in non-cirrhotic, non-diabetic patients treated before complications \u2192 reduced survival in cirrhotics \u2192 conclusion: early treatment before cirrhosis = excellent prognosis + Falize 2006 - Gastroenterology: phlebotomies \u2192 histological improvement of fibrosis in 30 % of early cirrhotics \u2192 no improvement in advanced cirrhosis \u2192 Adams 2010 - Journal of Hepatology: iron depletion \u2192 59 % reduction in HCC risk vs. untreated patients in an Australian cohort + Beaton 2019 - Hepatology Communications: phlebotomies \u2192 improvement in liver stiffness (FibroScan) over 2 years; HCC on hemochromatosis - management: monitoring of HH cirrhotics \u2192 if HCC detected at early stage (BCLC 0-A) \u2192 surgical resection or radiofrequency ablation \u2192 liver transplantation if decompensated cirrhosis \u00b1 HCC \u2192 transplantation definitively corrects iron overload (transplanted liver produces normal hepcidin) \u2192 monitor recurrent post-transplant hyperferritinemia if C282Y\/C282Y recipient + wild-type donor; contraindications or difficulties with phlebotomies: severe anemia (<10 g\/dL) + decompensated cardiomyopathy \u2192 alternative erythrocytapheresis (removes RBCs without plasma loss \u2192 more effective per session) + iron chelators (IV deferoxamine or PO deferasirox): reserved for patients intolerant of phlebotomy \u2192 less effective than phlebotomy \u2192 high cost \u2192 side effects (deferasirox nephrotoxicity + deferoxamine ocular\/auditory toxicity) \u2192 treatment of comorbidities: total alcohol abstinence (potentiates fibrosis + HCC) + treatment of diabetes + treatment of hypogonadism (TRT if indicated) + management of arthropathy (NSAIDs + infiltrations + orthopedic surgery if severe) + vitamin C supplementation not recommended at high doses (vitamin C mobilizes iron from deposits \u2192 risk of abrupt release of unbound iron \u2192 acute oxidative stress \u2192 arrhythmias) \u2192 dietary advice: avoid iron supplements \u2192 avoid excess red meat \u2192 alcohol: total abstinence if liver damage \u2192 avoid vitamin C supplements \u2192 strong tea: natural iron chelator (tannins) \u2192 may slightly reduce absorption \u2192 no strict diet but avoid excesses<\/td>\n <\/tr>\n <tr>\n <td>Differential diagnosis - non-HH hyperferritinemia and secondary forms<br><small style=\"font-weight:400;color:#7a8fa0;\">NAFLD \u2014 alcohol \u2014 inflammation \u2014 transfusions \u2014 aceruloplasminemia \u2014 African iron overload<\/small><\/td>\n <td>Hyperferritinemia - non-genetic causes (most frequent in practice): inflammatory syndrome (ferritin = acute phase reagent): CRP elevated + fibrinogen + ferritin elevated + ST normal \u2192 do not genotype if CRP very high \u2192 wait for resolution of inflammation + metabolic syndrome and NAFLD\/NASH: most frequent cause of hyperferritinemia in clinical practice \u2192 abdominal obesity + insulin resistance + hepatic steatosis \u2192 elevated ferritin (up to 1,000-2,000 \u00b5g\/L) + normal or moderately elevated ST (25-40 %) \u2192 non-HFE \u2192 treatment: weight loss + exercise + treatment of T2DM \u2192 ferritin decreases without phlebotomy \u2192 Bacon 2011 - Gastroenterology: NAFLD + elevated ferritin \u2192 accelerated hepatic fibrolysis but moderate intrahepatic iron \u2192 no HH \u2192 chronic alcoholism: hepatic cytolysis \u2192 release of cellular ferritin + stimulation of synthesis by ethanol \u2192 ferritin up to 5,000-10,000 \u00b5g\/L + ST often elevated by hepatocyte damage \u2192 distinguish from HH \u2192 HFE genotyping + abstinence 3-6 months \u2192 reassessment \u2192 hemolysis and intravascular hemolysis: hemolysis \u2192 hemoglobin release \u2192 catabolism \u2192 iron + ferritin \u2192 hemolytic anemia + elevated LDH + collapsed haptoglobin + bilirubin + acute hepatic cytolysis (fulminant hepatitis + hepatic ischemia): massive release of ferritin \u2192 ferritin >50,000-100,000 \u00b5g\/L \u2192 diagnosis evident in clinical picture + multiple transfusions: transfusional hemosiderosis \u2192 iron in splenic + hepatic macrophages \u2192 MRI: splenic + hepatic overload + no HFE mutation + aceruleoplasminemia (very rare): CPL mutation \u2192 absence of ceruloplasmin \u2192 defect in Fe\u00b2\u207a oxidation \u2192 intracellular accumulation \u2192 very high ferritin + low ceruloplasmin + microcytic anemia + neurological involvement \u2192 MRI: iron in basal ganglia + cerebellum + liver + pancreas + hyperferritinemia-cataract syndrome (HHCS): mutation of the IRE gene of the L-ferritin gene \u2192 no iron overload \u2192 ferritin elevated in serum BUT normal in tissues \u2192 normal ST \u2192 early bilateral cataract \u2192 no martial therapy required \u2192 important: do not treat hyperferritinemia of inflammatory or metabolic origin with phlebotomies.<\/td>\n <td>Non-HFE forms - rare genetic hemochromatoses: juvenile hemochromatosis (type 2A - HJV + type 2B - HAMP) : severe overload before age 30 \u2192 cardiomyopathy + arrhythmias + severe hypogonadism + early cirrhosis \u2192 non-HFE genotype + T2* cardiac MRI + complete hormonal workup \u2192 intensive phlebotomies (2-3\/week initially) + if severe cardiomyopathy \u2192 emergency IV deferoxamine + hemochromatosis type 3 (TFR2): similar to type 1 but often more severe + hemochromatosis type 4 (SLC40A1 - ferroportin disease): type 4A: accumulation in macrophages + high ferritin + normal ST + anemia on phlebotomies (poor tolerance) \u2192 type 4B: similar to type 1 \u2192 hepcidin resistance + iron accumulation disease in macrophages (Type 4A): phlebotomies are more difficult (rapid anemia) \u2192 less frequent bleeding; heminoplasmin and new treatments under evaluation for severe non-HFE forms: minihepcidin (peptide analogues of hepcidin): in phase 2 \u2192 reduce iron absorption \u2192 potential in refractory juvenile hemochromatosis + matriptase 2 inhibitors (TMPRSS6): increase endogenous hepcidin production \u2192 clinical trials underway + siRNAs targeting ferroportin: in development \u2192 no approved treatment yet beyond phlebotomy and chelation therapy in severe forms<\/td>\n <\/tr>\n <\/tbody>\n <\/table>\n\n <div class=\"co-infobox\">\n <span class=\"ico\">\u2139\ufe0f<\/span>\n <span><strong>Fasting transferrin saturation is the first marker to rise in hereditary hemochromatosis:<\/strong> A repeated fasting transferrin saturation (TSAT) of \u226545% %, in the absence of acute inflammation, should trigger HFE genotyping. Ferritin alone, often elevated for inflammatory or metabolic reasons, is not sufficient for diagnosis. If genotyping confirms C282Y\/C282Y, phlebotomy should be started even in an asymptomatic patient, as early treatment before cirrhosis reduces mortality to that of the general population.<\/span>\n <\/div>\n\n <div class=\"co-urgence\">\n <div class=\"co-urgence-titre\">Situations requiring urgent medical assessment<\/div>\n <p><strong>Acute heart failure + severe arrhythmias (rapid AFib + complete AV block) in a man under 40 with no known heart disease + very high ferritin<\/strong> Juvenile hemochromatosis type 2 or HFE hemochromatosis with advanced cardiomyopathy \u2192 Urgent hospitalization \u2192 Emergency cardiac MRI (cardiac T2*) \u2192 IV deferoxamine if T2* <10 ms \u2192 Delayed phlebotomies until cardiac stabilization \u2192 Heart transplantation as a last resort.<\/p>\n <p><strong>Discovery of a liver nodule \u22651 cm on surveillance ultrasound in a known cirrhotic with HH<\/strong> \u2192 Suspected HCC \u2192 Emergency hepatic MRI with gadolinium contrast (wash-in + wash-out) \u2192 if HCC confirmed BCLC 0\u2013A \u2192 multidisciplinary discussion (resection + ablation + transplantation) \u2192 do not delay characterization imaging.<\/p>\n <p><strong>Ferritin >5,000 \u00b5g\/L + ST >70 % + severe hepatic cytolysis (ALT >10x normal) + decreased TP + elevated bilirubin + confusion<\/strong> \u2192 acute liver failure due to severe iron overload or decompensated HH cirrhosis \u2192 urgent hospitalization \u2192 liver failure assessment + transplant center contact + treatment of encephalopathy + absolute abstinence from alcohol + evaluation for liver transplant indication (MELD \u226515\u201320).<\/p>\n <p><strong>Siblings of a C282Y\/C282Y proposer with detected TS \u226560 % + asymptomatic ferritin 3000 \u00b5g\/L<\/strong> \u2192 Unexplained advanced overload \u2192 Not an immediate life-threatening emergency, but rapid evaluation by hepatology \u2192 Hepatic MRI (iron overload + fibrosis) + organ evaluation \u2192 Start phlebotomies without delay \u2192 The earlier the management, the more reversible the lesions are.<\/p>\n <\/div>\n\n <h2>Consult at Clinique Omicron<\/h2>\n <p>Clinique Omicron physicians prescribe and interpret the complete iron panel \u2014 transferrin saturation, ferritin \u2014 for the screening and monitoring of hereditary hemochromatosis, coordinate HFE genotyping, manage the initial treatment and follow-up of therapeutic phlebotomies, and refer patients to hepatology or internal medicine for complex cases or those with significant organ damage. Consultations are available at several service points in Quebec and via telemedicine. To book an appointment, visit <a href=\"https:\/\/cliniqueomicron.ca\">cliniqueomicron.ca<\/a>.<\/p>\n\n <p class=\"co-disclaimer\">The content of this page is provided for informational purposes only and does not substitute for medical advice from a physician or hepatologist. Any persistent hyperferritinemia or elevated transferrin saturation requires a comprehensive medical evaluation to determine the cause before considering treatment.<\/p>\n<\/div>\n<\/body>\n<\/html>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron H\u00e9patologie & M\u00e9decine interne & M\u00e9decine de famille & G\u00e9n\u00e9tique m\u00e9dicale H\u00e9mochromatose h\u00e9r\u00e9ditaire L’h\u00e9mochromatose h\u00e9r\u00e9ditaire (HH) est la maladie g\u00e9n\u00e9tique autosomique r\u00e9cessive la plus fr\u00e9quente dans les populations d’origine nord-europ\u00e9enne, caract\u00e9ris\u00e9e par une absorption intestinale excessive du fer alimentaire conduisant \u00e0 son accumulation progressive… <a href=\"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/\" rel=\"bookmark\">Read More \"<span class=\"screen-reader-text\">Hereditary Hemochromatosis: Diagnosis, HFE Mutations, and Treatment | Clinique Omicron<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"neve_meta_sidebar":"","neve_meta_container":"","neve_meta_enable_content_width":"off","neve_meta_content_width":100,"neve_meta_title_alignment":"","neve_meta_author_avatar":"","neve_post_elements_order":"","neve_meta_disable_header":"","neve_meta_disable_footer":"","neve_meta_disable_title":"","_themeisle_gutenberg_block_has_review":false,"_metasync_otto_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","_metasync_otto_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","_metasync_otto_keywords":"","_metasync_otto_og_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","_metasync_otto_og_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","_metasync_otto_twitter_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","_metasync_otto_twitter_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","rank_math_title":"","rank_math_description":"","_yoast_wpseo_title":"","_yoast_wpseo_metadesc":"","_aioseo_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron","_aioseo_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu\u00e9bec.","_metasync_seo_title":"","_metasync_seo_desc":"","_metasync_breadcrumb_title":"","_metasync_primary_category":0,"_metasync_primary_product_cat":0,"_metasync_otto_disabled":"","_metasync_hreflang":"","_metasync_plugin_sync_ts":"{\"aioseo\":\"2026-05-04T21:54:10+00:00\"}","_metasync_robots_advanced":"","footnotes":""},"class_list":["post-24633","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t<meta name=\"description\" content=\"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...\" \/>\n\t<meta name=\"robots\" content=\"max-snippet:1, max-image-preview:large, max-video-preview:1\" \/>\n\t<meta name=\"google-site-verification\" content=\"yYDMZv-nme7Cg-KrW5GmEWceBTrCDv8zhSkkXdJSnyM\" \/>\n\t<meta name=\"msvalidate.01\" content=\"3225E6935FC4F40C7DDCE56C37141BA8\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 4.9.10\" \/>\n\t\t<meta property=\"og:locale\" content=\"en_US\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinique Omicron - Clinique M\u00e9dicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron\" \/>\n\t\t<meta property=\"og:description\" content=\"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/\" \/>\n\t\t<meta property=\"og:image\" content=\"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg\" \/>\n\t\t<meta property=\"og:image:secure_url\" content=\"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2026-03-01T02:54:16+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-03-12T17:00:05+00:00\" \/>\n\t\t<meta property=\"article:publisher\" content=\"https:\/\/facebook.com\/Clinique Omicron\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:site\" content=\"@Clinique%20Omicron\" \/>\n\t\t<meta name=\"twitter:title\" content=\"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron\" \/>\n\t\t<meta name=\"twitter:description\" content=\"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...\" \/>\n\t\t<meta name=\"twitter:creator\" content=\"@Clinique%20Omicron\" \/>\n\t\t<meta name=\"twitter:image\" content=\"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg\" \/>\n\t\t<script type=\"application\/ld+json\" class=\"aioseo-schema\">\n\t\t\t{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#breadcrumblist\",\"itemListElement\":[{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en#listItem\",\"position\":1,\"name\":\"Accueil\",\"item\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#listItem\",\"name\":\"H\\u00e9mochromatose h\\u00e9r\\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#listItem\",\"position\":2,\"name\":\"H\\u00e9mochromatose h\\u00e9r\\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron\",\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en#listItem\",\"name\":\"Accueil\"}}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#webpage\",\"url\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/\",\"name\":\"H\\u00e9mochromatose h\\u00e9r\\u00e9ditaire : | Brossard | Clinique Omicron\",\"description\":\"L'h\\u00e9mochromatose h\\u00e9r\\u00e9ditaire est une surcharge en fer li\\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\\u00e9botomies et prise en charge au Qu...\",\"inLanguage\":\"en-CA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/#website\"},\"breadcrumb\":{\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#breadcrumblist\"},\"datePublished\":\"2026-02-28T22:54:16-04:00\",\"dateModified\":\"2026-03-12T13:00:05-04:00\"},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/#website\",\"url\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/\",\"name\":\"Clinique Omicron\",\"description\":\"Clinique M\\u00e9dicale\",\"inLanguage\":\"en-CA\",\"publisher\":{\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/#organization\"}}]}\n\t\t<\/script>\n\t\t\r\n\t\t<title>H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron<\/title>\n\n","aioseo_head_json":{"title":"Hereditary Hemochromatosis: | Brossard | Clinique Omicron","description":"Hereditary hemochromatosis is iron overload linked to HFE mutations. Ferritin, transferrin saturation, phlebotomies, and management in Quebec...","canonical_url":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/","robots":"max-snippet:1, max-image-preview:large, max-video-preview:1","keywords":"","webmasterTools":{"google-site-verification":"yYDMZv-nme7Cg-KrW5GmEWceBTrCDv8zhSkkXdJSnyM","msvalidate.01":"3225E6935FC4F40C7DDCE56C37141BA8","miscellaneous":""},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"BreadcrumbList","@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#breadcrumblist","itemListElement":[{"@type":"ListItem","@id":"https:\/\/cliniqueomicron.ca\/en#listItem","position":1,"name":"Accueil","item":"https:\/\/cliniqueomicron.ca\/en","nextItem":{"@type":"ListItem","@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#listItem","name":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron"}},{"@type":"ListItem","@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#listItem","position":2,"name":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron","previousItem":{"@type":"ListItem","@id":"https:\/\/cliniqueomicron.ca\/en#listItem","name":"Accueil"}}]},{"@type":"WebPage","@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#webpage","url":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/","name":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","inLanguage":"en-CA","isPartOf":{"@id":"https:\/\/cliniqueomicron.ca\/en\/#website"},"breadcrumb":{"@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#breadcrumblist"},"datePublished":"2026-02-28T22:54:16-04:00","dateModified":"2026-03-12T13:00:05-04:00"},{"@type":"WebSite","@id":"https:\/\/cliniqueomicron.ca\/en\/#website","url":"https:\/\/cliniqueomicron.ca\/en\/","name":"Clinique Omicron","description":"Clinique M\u00e9dicale","inLanguage":"en-CA","publisher":{"@id":"https:\/\/cliniqueomicron.ca\/en\/#organization"}}]},"og:locale":"en_US","og:site_name":"Clinique Omicron - Clinique M\u00e9dicale","og:type":"article","og:title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","og:description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","og:url":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/","og:image":"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg","og:image:secure_url":"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg","article:published_time":"2026-03-01T02:54:16+00:00","article:modified_time":"2026-03-12T17:00:05+00:00","article:publisher":"https:\/\/facebook.com\/Clinique Omicron","twitter:card":"summary_large_image","twitter:site":"@Clinique%20Omicron","twitter:title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","twitter:description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","twitter:creator":"@Clinique%20Omicron","twitter:image":"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg"},"aioseo_meta_data":{"post_id":"24633","title":"Hereditary Hemochromatosis: | Brossard | Clinique Omicron","description":"Hereditary hemochromatosis is iron overload linked to HFE mutations. Ferritin, transferrin saturation, phlebotomies, and management in Quebec...","keywords":null,"keyphrases":{"focus":{"keyphrase":"h\u00e9mochromatose","score":75,"analysis":{"keyphraseInTitle":{"score":9,"maxScore":9,"error":0},"keyphraseInDescription":{"score":9,"maxScore":9,"error":0},"keyphraseLength":{"score":9,"maxScore":9,"error":0,"length":2},"keyphraseInURL":{"score":5,"maxScore":5,"error":0},"keyphraseInIntroduction":{"score":9,"maxScore":9,"error":0},"keyphraseInSubHeadings":{"score":3,"maxScore":9,"error":1},"keyphraseInImageAlt":[],"keywordDensity":{"type":"high","score":0,"maxScore":9,"error":1}}},"additional":[]},"primary_term":null,"canonical_url":null,"og_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","og_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","og_object_type":"default","og_image_type":"default","og_image_url":null,"og_image_width":null,"og_image_height":null,"og_image_custom_url":null,"og_image_custom_fields":null,"og_video":"","og_custom_url":null,"og_article_section":null,"og_article_tags":null,"twitter_use_og":true,"twitter_card":"summary_large_image","twitter_image_type":"default","twitter_image_url":null,"twitter_image_custom_url":null,"twitter_image_custom_fields":null,"twitter_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","twitter_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","schema":{"blockGraphs":[],"customGraphs":[],"default":{"data":{"Article":[],"Course":[],"Dataset":[],"FAQPage":[],"Movie":[],"Person":[],"Product":[],"ProductReview":[],"Car":[],"Recipe":[],"Service":[],"SoftwareApplication":[],"WebPage":[]},"graphName":"WebPage","isEnabled":true},"graphs":[]},"schema_type":"default","schema_type_options":null,"pillar_content":false,"robots_default":false,"robots_noindex":false,"robots_noarchive":false,"robots_nosnippet":false,"robots_nofollow":false,"robots_noimageindex":false,"robots_noodp":false,"robots_notranslate":false,"robots_max_snippet":"1","robots_max_videopreview":"1","robots_max_imagepreview":"large","priority":null,"frequency":"default","local_seo":null,"seo_analyzer_scan_date":"2026-04-24 08:54:32","breadcrumb_settings":null,"limit_modified_date":false,"reviewed_by":null,"open_ai":null,"ai":{"faqs":[],"keyPoints":[],"titles":[],"descriptions":[],"socialPosts":{"email":[],"linkedin":[],"twitter":[],"facebook":[],"instagram":[]}},"created":"2026-03-01 03:35:42","updated":"2026-05-04 17:54:10"},"aioseo_breadcrumb":"<div class=\"aioseo-breadcrumbs\"><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/cliniqueomicron.ca\/en\" title=\"Accueil\">Accueil<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">\u203a<\/span><span class=\"aioseo-breadcrumb\">\n\tH\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron\n<\/span><\/div>","aioseo_breadcrumb_json":[{"label":"Accueil","link":"https:\/\/cliniqueomicron.ca\/en"},{"label":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron","link":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/"}],"_links":{"self":[{"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/pages\/24633","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/comments?post=24633"}],"version-history":[{"count":4,"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/pages\/24633\/revisions"}],"predecessor-version":[{"id":29632,"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/pages\/24633\/revisions\/29632"}],"wp:attachment":[{"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/media?parent=24633"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}

\n\t\t\t\t

\n\t\t\t\t\t

\n\t\t\t\t

\n\t\t\t\t\t\n\n\n\n\nHereditary Hemochromatosis: Diagnosis, HFE Mutations, and Treatment | Clinique Omicron<\/title>\n<meta name=\"description\" content=\"Hereditary hemochromatosis is iron overload related to HFE mutations. Ferritin, transferrin saturation, phlebotomies, and management in Quebec.\">\n<meta name=\"keywords\" content=\"h\u00e9mochromatose h\u00e9r\u00e9ditaire, mutation HFE C282Y, ferritine \u00e9lev\u00e9e, saturation transferrine, surcharge en fer, phl\u00e9botomie h\u00e9mochromatose, h\u00e9mochromatose Qu\u00e9bec, diagnostic h\u00e9mochromatose\">\n<link rel=\"preconnect\" href=\"https:\/\/fonts.googleapis.com\">\n<link href=\"https:\/\/fonts.googleapis.com\/css2?family=Cinzel:wght@600&family=Poppins:wght@400;500;600;700&display=swap\" rel=\"stylesheet\">\n<style>\n.co-wrap * { font-family: 'Poppins', sans-serif; box-sizing: border-box; }\n.co-wrap { max-width: 1100px; margin: 0 auto; padding: 30px 0 60px; }\n.co-label { font-family: 'Cinzel', serif; font-size: 14px; font-weight: bold; letter-spacing: 1px; text-transform: uppercase; color: #4D6577; margin-bottom: 14px; display: block; }\n.co-wrap h1 { font-size: 32px; font-weight: 500; color: #323C52; margin: 0 0 22px; line-height: 1.2; }\n.co-intro { font-size: 16px; line-height: 1.75; color: #4D6577; margin-bottom: 36px; padding-bottom: 32px; border-bottom: 1px solid rgba(77,101,119,.2); }\n.co-wrap h2 { font-size: 20px; font-weight: 600; color: #323C52; margin: 32px 0 12px; }\n.co-wrap p { font-size: 15px; color: #4D6577; line-height: 1.7; margin-bottom: 14px; }\n.co-list { list-style: none; padding: 0; margin: 12px 0 24px; }\n.co-list li { font-size: 15px; color: #4D6577; padding: 10px 14px 10px 38px; margin-bottom: 8px; border-radius: 6px; position: relative; background: rgba(77,101,119,.06); border-left: 3px solid #4D6577; }\n.co-list li::before { content: \"\u2713\"; position: absolute; left: 12px; font-weight: 700; color: #4D6577; }\n.co-table { width: 100%; border-collapse: collapse; margin: 14px 0 22px; font-size: 14px; border-radius: 8px; overflow: hidden; table-layout: fixed; }\n.co-table thead tr { background: #323C52; color: #fff; }\n.co-table thead th { padding: 11px 16px; text-align: left; font-weight: 600; font-size: 13px; }\n.co-table tbody tr:nth-child(even) { background: rgba(77,101,119,.06); }\n.co-table tbody tr:nth-child(odd) { background: #fff; }\n.co-table td { padding: 10px 16px; color: #4D6577; border-bottom: 1px solid rgba(77,101,119,.12); font-size: 14px; vertical-align: top; }\n.co-table td:first-child { font-weight: 600; color: #323C52; }\n.co-infobox { display: flex; gap: 12px; background: rgba(77,101,119,.06); border-radius: 8px; border-left: 4px solid #4D6577; padding: 14px 18px; margin: 18px 0 28px; font-size: 14px; color: #4D6577; line-height: 1.65; }\n.co-infobox .ico { font-size: 18px; flex-shrink: 0; }\n.co-urgence { background: #fff8f8; border-left: 5px solid #c0392b; border-radius: 6px; padding: 20px 26px; margin: 24px 0 32px; }\n.co-urgence .co-urgence-titre { font-size: 13px; font-weight: 700; color: #c0392b; letter-spacing: 1.5px; text-transform: uppercase; margin-bottom: 10px; }\n.co-urgence p { color: #5a2020; font-size: 14px; margin: 0 0 10px; line-height: 1.7; }\n.co-urgence p:last-child { margin-bottom: 0; }\n.co-disclaimer { font-size: 13px; color: #8a9aaa; font-style: italic; border-top: 1px solid rgba(77,101,119,.15); padding-top: 24px; margin-top: 40px; line-height: 1.6; }\n<\/style>\n<\/head>\n<body>\n<div class=\"co-wrap\">\n <span class=\"co-label\">Hepatology & Internal Medicine & Family Medicine & Medical Genetics<\/span>\n <h1>Hereditary hemochromatosis<\/h1>\n\n <div class=\"co-intro\">\n Hereditary hemochromatosis (HH) is the most common autosomal recessive genetic disease in populations of Northern European origin, characterized by excessive intestinal absorption of dietary iron leading to its progressive accumulation in target organs - liver, pancreas, heart, joints, pituitary gland, skin - and irreversible organ damage if left untreated. The most frequent form is type 1 hemochromatosis, linked to mutations of the HFE gene on chromosome 6p: the C282Y mutation (cysteine \u2192 tyrosine substitution at position 282) is responsible for 80-85 % of clinical cases in Caucasian populations, and the H63D mutation constitutes a variant of lower penetrance, clinically significant especially in composite C282Y\/H63D heterozygosity. Hemochromatosis is based on dysregulation of hepcidin - a hepatic peptide hormone central to iron metabolism - whose insufficient production or receptor insensitivity prevents regulation of ferroportin, keeping intestinal iron absorption and release from macrophages at inappropriate levels. Clinical penetrance is incomplete: only 10-30 % of C282Y homozygotes develop clinically expressive disease, with women protected by menstrual discharge until menopause. Diagnosis is based on transferrin saturation (TS) - the first marker to rise (>45 %) - and ferritinemia - a marker of iron reserves - confirmed by HFE genotyping. Therapeutic phlebotomy (bloodletting) is the reference treatment: simple, effective, well-tolerated and inexpensive, it normalizes iron reserves and prevents organic complications if started before irreversible lesions set in.\n <\/div>\n\n <h2>Pathophysiology, genetics, and clinical presentation<\/h2>\n <ul class=\"co-list\">\n <li><strong>Iron metabolism, role of hepcidin, and mechanism of overload in HH:<\/strong> normal iron metabolism: intestinal absorption (duodenum + proximal jejunum): 1-2 mg\/d (compensates for losses) out of 10-20 mg absorbed \u2192 transmembrane transport: DMT1 (divalent metal transporter 1) \u2192 internalization in enterocyte \u2192 ferroportin (FPN1) \u2192 export to circulation \u2192 oxidation by hephaestine \u2192 transferrin binding (apotransferrin \u2192 monoferric \u2192 diferric transferrin) \u2192 storage: intracellular ferritin + hemosiderin \u2192 plasma transferrin \u2192 transferrin receptor (TfR1) \u2192 endocytosis in erythroblasts (erythropoiesis) + hepatocytes \u2192 recycling of senescent RBCs by splenic macrophages: 25 mg\/d recovered \u2192 95 % of circulating iron comes from macrophagic recycling \u2192 intestinal absorption = small fraction; hepcidin - conductor of iron metabolism: 25 amino acid peptide + synthesized by liver \u2192 binds to ferroportin \u2192 induces its internalization and degradation \u2192 blocks iron export from : enterocytes + macrophages + hepatocytes \u2192 hepcidin regulation: increased by: iron overload (via BMP6-BMPR\/HJV axis) + inflammation (IL-6 \u2192 STAT3) \u2192 decreased by: iron deficiency + hypoxia (HIF-2\u03b1) + increased erythropoiesis (GDF15 + ERFE - erythroferrone) \u2192 HH type 1 (HFE) mechanism: normal HFE protein binds transferrin receptor TfR1 and TfR2 \u2192 sensing iron saturation \u2192 signaling to BMP6\/HJV \u2192 hepcidin production \u2192 in C282Y HH: mutated HFE protein does not normally associate with TfR2 \u2192 signaling defect \u2192 insufficient hepcidin production \u2192 constitutionally active ferroportin \u2192 unregulated intestinal absorption \u2192 permanent macrophagic release \u2192 progressive accumulation of iron \u2192 200-500 mg\/year of excess iron \u2192 total stores up to 20-50 g (normal: 3-4 g) \u2192 oxidative stress damage: Fe\u00b2\u207a + H\u2082O\u2082 \u2192 hydroxyl radicals (Fenton reaction) \u2192 lipid peroxidation + DNA damage + fibrosis \u2192 cirrhosis + CHC + diabetes + cardiomyopathy; types of hereditary hemochromatosis: type 1 (HFE): C282Y\/C282Y (most common in Northern Europe - prevalence 1\/200 to 1\/300 in subjects of Northern European ancestry) + type 2A (HJV - hemojevelin): juvenile hemochromatosis \u2192 severe overload before age 30 + heart disease + hypogonadism \u2192 rare + type 2B (HAMP - hepcidin): same juvenile phenotype \u2192 very rare + type 3 (TFR2): transferrin receptor 2 mutation \u2192 phenotype similar to type 1 but more severe \u2192 rare + type 4A\/4B (SLC40A1 - ferroportin): autosomal dominant inheritance \u2192 type 4A: loss-of-function ferroportin \u2192 accumulation in macrophages + few organ complications \u2192 type 4B: hepcidin-resistant ferroportin \u2192 phenotype similar to type 1<\/li>\n <li><strong>Epidemiology, HFE mutation genetics, and clinical penetrance:<\/strong> epidemiology: HFE type 1 hemochromatosis: the most common autosomal recessive disease in populations of Celtic (Irish + Scottish + Welsh) + Northern European origin \u2192 prevalence of C282Y homozygotes: 1\/200-1\/400 in Ireland + 1\/300-1\/400 in Canadian populations of Northern European origin \u2192 C282Y heterozygotes: 1\/8 to 1\/10 \u2192 healthy carriers \u2192 H63D: widespread (15-20 % of the general population of European ancestry in heterozygosity) \u2192 composite C282Y\/H63D heterozygosity (2-3 % of the population) \u2192 minor clinical phenotype in the majority \u2192 S65C: rare mutation + little clinical significance; clinical penetrance of HH C282Y\/C282Y: Allen 2008 - NEJM (HealthIron Study - Australia + UK - 31,192 subjects): homozygous C282Y \u2192 transferrin saturation elevated in 75 % of men + 60 % of women \u2192 ferritin elevated in 75 % of men + 40 % of women \u2192 clinically expressive disease (symptoms + organ damage): 28 % of homozygous men + 1 % of homozygous women \u2192 conclusion: low clinical penetrance \u2192 the vast majority of C282Y homozygotes will never develop symptomatic disease \u2192 factors modulating penetrance: sex (women protected by menstrual discharge) + alcohol consumption (potentiates overload + fibrosis) + modifying polymorphisms (SLC11A2 + TFR2 + CYBRD1 + associated hepcidinopathies) + dietary iron intake + frequent blood donations (reduced reserves) + co-morbidities (hepatic steatosis + hepatitis C \u2192 accelerated fibrosis); H63D mutations - clinical significance: homozygous H63D\/H63D: slight transferrin saturation excess \u2192 very rare clinical overload \u2192 does not require specific monitoring if ST normal + composite heterozygous H63D\/C282Y: ST often elevated + elevated ferritin possible \u2192 mild to moderate disease \u2192 clinical overload in <1 % \u2192 HFE genotyping + martial workup \u2192 MRI if elevated ferritin + single heterozygous H63D: carrier \u2192 no significant overload \u2192 non-systematic family screening required; population screening and family screening: mass screening: not universally recommended (USPSTF \u2192 insufficient evidence) \u2192 transferrin saturation test if clinical suspicion (unexplained fatigability + incidental elevated ferritin) + family screening: recommended for 1st degree relatives of a C282Y\/C282Y proposer \u2192 ST + ferritin assay + HFE genotyping \u2192 if siblings \u2192 25 % risk of being homozygous C282Y \u2192 Health Canada + MSSS: screening of siblings of an index case \u2192 family screening program<\/li>\n <li><strong>Clinical manifestations \u2013 target organs and timeline of overload:<\/strong> chronology of accumulation and manifestations: stage 0: genetic predisposition \u2192 homozygous C282Y \u2192 no overload yet + stage 1: inconsequential iron overload \u2192 high ST + normal ferritin \u2192 asymptomatic \u2192 age: 20-40 years \u2192 stage 2: increasing overload \u2192 high ferritin \u2192 nonspecific symptoms \u2192 stage 3: organic overload \u2192 hepatic + articular + endocrine involvement \u2192 hepatic fibrosis \u2192 stage 4: irreversible complications \u2192 cirrhosis + diabetes + cardiomyopathy + hypogonadism \u2192 age: >40-50 years; clinical manifestations by organ: liver (most affected organ): hepatomegaly (1st clinical sign) \u2192 moderate hepatic cytolysis (ALT\/AST 2-4\u00d7 normal) \u2192 progressive fibrosis \u2192 cirrhosis \u2192 CHC (risk \u00d720 to 200 vs. general population in cirrhosis on HH) \u2192 Kowdley 2005 - Gastroenterology: HCC in 30 % of untreated homozygous C282Y cirrhotics + HCC risk persists even after normalization of iron stores if cirrhosis is already established; joints (chondrocalcinosis arthropathy): affected in 40-75 % of symptomatic cases \u2192 metacarpophalangeal joints (MCP) 2 and 3 +++ (\u00abpainful handshake\u00bb) \u2192 pathognomonic when bilateral + early + calcium pyrophosphate deposits (CPDD) \u2192 radiological chondrocalcinosis \u2192 hip + knee + lumbar \u2192 chronic joint pain \u2192 arthropathy is poorly reversible under phlebotomy \u2192 panaceas; pancreas: \u00abhemochromatosis\u00bb type diabetes (bronze diabetes) \u2192 iron deposits in \u03b2 cells + acinar cells \u2192 endocrine insufficiency (diabetes + hyperglycemia) + exocrine (malabsorption) \u2192 iron is directly toxic to \u03b2 cells \u2192 partial improvement under phlebotomies if not cirrhotic; heart: dilated cardiomyopathy + rhythm disorders (AF + AV block) + heart failure \u2192 iron deposits in cardiomyocytes \u2192 systolic and diastolic dysfunction \u2192 Strohmeyer 1988 - Medicine: cardiac involvement in 15 % of symptomatic HH \u2192 reversible under treatment if started before decompensation; endocrine glands: hypogonadotropic hypogonadism (pituitary deposits \u2192 gonadotropic insufficiency \u2192 LH + FSH deficiency \u2192 secondary hypogonadism \u2192 impotence + amenorrhea + testicular atrophy + osteoporosis) + hypothyroidism (thyroid deposits) + adrenal insufficiency (rare) + skin: melanoderma - tanned or slate-gray complexion (melanin deposits + hemosiderin \u2192 melanocyte activation) \u2192 \u00abcoppery\u00bb complexion \u2192 classic triad: cirrhosis + diabetes + tanning = Trousseau's \u00abdiab\u00e8te bronz\u00e9\u00bb (1865) but late stage avoided if detected early <\/ul>\n\n <h2>Biological diagnostics, imaging, and treatment<\/h2>\n <table class=\"co-table\">\n <colgroup><col style=\"width:200px;\"><col style=\"width:42%;\"><col><\/colgroup>\n <thead>\n <tr><th>Step \/ processing<\/th><th>Methodology and Interpretation<\/th><th>Evidence and follow-up<\/th><\/tr>\n <\/thead>\n <tbody>\n <tr>\n <td>Biological iron assessment \u2014 transferrin saturation and ferritin<br><small style=\"font-weight:400;color:#7a8fa0;\">ST >45 % \u2014 ferritin \u2014 serum iron \u2014 transferrin \u2014 fasting \u2014 diagnostic algorithm<\/small><\/td>\n <td>Transferrin saturation (ST) - first warning marker: ST = (serum iron \/ CTLF) \u00d7 100 = (serum iron \/ transferrin \u00d7 25.1) \u00d7 100 \u2192 represents filling of transferrin binding sites \u2192 normal: male 20-45 % + female 16-45 % \u2192 HH warning threshold: ST \u226545 % fasting (in the morning, before any meal) \u2192 ST is the best early marker of HH \u2192 rises before ferritin (stage 1) \u2192 sensitivity for C282Y\/C282Y: 90-95 % \u2192 limited specificity (false positives: alcoholic cirrhosis + acute hepatitis + hemolytic anemia) \u2192 sampling condition: fasting in the morning \u2192 serum iron increases by 20-30 % postprandially \u2192 false positives reduce; ferritinemia: marker of total iron stores \u2192 normal: male 30-300 \u00b5g\/L + female 15-200 \u00b5g\/L \u2192 elevated ferritin in HH: correlates approximately with hepatic iron stores \u2192 ferritin >1,000 \u00b5g\/L \u2192 high risk of significant hepatic fibrosis (Guyader 1998 - Gastroenterology) + ferritin >2,000-3,000 \u00b5g\/L \u2192 frequent cirrhosis \u2192 BUT: ferritin is an acute-phase reagent \u2192 very numerous false positives: inflammatory syndrome + metabolic syndrome + NAFLD\/NASH + alcoholism + hepatic cytolysis \u2192 isolated elevated ferritin without elevated ST often points to inflammatory syndrome or fatty liver rather than HH \u2192 recommended diagnostic algorithm (EASL 2010 + CASL 2018 + SCC): step 1: fasting ST + ferritin + CBC + liver workup \u2192 if ST \u226545 % \u2192 step 2: HFE genotyping (C282Y + H63D) \u2192 if C282Y\/C282Y or C282Y\/H63D \u2192 complete workup + treatment decision \u2192 if non-HFE and ST elevated \u2192 liver MRI + liver biopsy if indication \u2192 other biochemical markers of martial workup: serum iron (normal 10-28 \u00b5mol\/L) + CTLF (total iron binding capacity \u2192 normal 45-80 \u00b5mol\/L \u2192 decreases in overload) + saturation coefficient = serum iron \/ CTLF \u00d7 100 \u2192 glycosylated ferritin (used in some centers - glycosylated fraction <20 % \u2192 iron overload; normal \u226550 %) \u2192 erythrocyte zinc protoporphyrin (ZPP): increases in iron deficiency \u2192 normal in HH (iron available for erythropoiesis) \u2192 useful for differentiating HH from martial deficiency in case of doubt; complete hepatogram before treatment: ALT + AST + GGT + total and conjugated bilirubin + PT + albumin + CBC (thrombocytopenia \u2192 portal hypertension?) + creatinine + blood glucose + HbA1c + TSH + lipid panel<\/td>\n <td>Interpretation of results in clinical practice - common situations: ST \u226545 % + elevated ferritin + C282Y\/C282Y \u2192 confirmed HFE hemochromatosis \u2192 organ involvement workup \u2192 phlebotomy treatment \u2192 ST \u226545 % + elevated ferritin + C282Y\/H63D \u2192 composite heterozygosity \u2192 liver MRI to quantify iron \u2192 if CHI (hepatic iron concentration) elevated \u2192 treatment + ST \u226545 % + normal ferritin + C282Y\/C282Y \u2192 early stage 1 \u2192 annual monitoring + avoidance of aggravating factors + normal ST + elevated ferritin \u2192 systemic inflammation or NAFLD\/metabolic syndrome much more likely than HH \u2192 inflammatory workup (CRP + fibrinogen) + liver workup + insulin resistance index \u2192 eliminate secondary cause as a priority + elevated ST + non-C282Y \u2192 non-HFE hemochromatosis \u2192 liver MRI \u2192 biopsy if necessary \u2192 genetics (HJV + HAMP + TFR2 + SLC40A1) \u2192 referral to internal medicine or hepatology ; indications for liver biopsy in HH (EASL 2010): indications: ferritin >1,000 \u00b5g\/L + elevated ALT + doubt about cirrhosis \u2192 PURPOSE: liver MRI has largely replaced biopsy for iron quantification \u2192 biopsy still useful for: assess degree of fibrosis (Metavir) + identify liver comorbidity (NASH + alcohol + HCV) + if non-HFE with inconclusive genetics \u2192 Brunt 2008 - American Journal of Gastroenterology: Perls index (Prussian blue staining) + Deugnier score for histological quantification of liver iron<\/td>\n <\/tr>\n <tr>\n <td>Liver MRI - Non-invasive quantification of liver iron<br><small style=\"font-weight:400;color:#7a8fa0;\">R2* \u2014 T2* \u2014 CHI \u2014 FibroScan \u2014 biopsy replacement<\/small><\/td>\n <td>Hepatic MRI for iron quantification - non-invasive reference method: physical principle: iron is paramagnetic \u2192 disturbs the local magnetic field \u2192 shortens T2 and T2* relaxation time \u2192 hypointense (black) MRI signal on T2* sequences \u2192 quantification: R2* (= 1\/T2*) \u2192 correlates with hepatic iron concentration (CHI) \u2192 reliable, reproducible measurement; sequences and methods used: R2* MRI (FerriScan or equivalent): reference method \u2192 CHI calculated in mg Fe\/g dry liver \u2192 normal: 7 mg Fe\/g \u2192 correlates with ferritinemia but more precise (not influenced by inflammation) \u2192 Gandon 2004 - Lancet : validation of R2 MRI* vs liver biopsy \u2192 excellent correlation (r = 0.93) \u2192 R2 MRI (Ferriscan method - FerriScan SA): FDA cleared + Health Canada \u2192 used as reference in clinical trial protocols + splenic and pancreatic involvement: iron accumulates in the liver and pancreas in HH but NOT in the spleen (the spleen accumulates iron in diseases with macrophagic overload - thalassemia + transfusions \u2192 in HH: absence of splenic overload is a distinctive sign of primary vs. secondary overload by transfusion); indication for liver MRI in HH: if C282Y\/C282Y or C282Y\/H63D + ferritin >300 \u00b5g\/L in men or >200 \u00b5g\/L in women \u2192 quantify CHI + assess fibrosis + rule out HCC \u2192 if ferritin <300 \u00b5g\/L \u2192 MRI not essential \u2192 start phlebotomies directly \u2192 if non-HFE genotype with confirmed overload \u2192 MRI essential to distinguish: non-HFE HH + secondary transfusion overload (splenic + medullary involvement) + metabolic syndrome (moderate overload + steatosis); hepatic elastography (FibroScan) in HH: measures hepatic stiffness in kPa \u2192 assesses fibrosis \u2192 BUT: iron overload itself increases stiffness \u2192 usual FibroScan thresholds less reliable if CHI very high \u2192 interpret with caution \u2192 maximum value under treatment (after iron depletion) more reliable for assessing residual fibrosis<\/td>\n <td>HCC screening in hemochromatosis - risk and surveillance: HCC risk in HH: Kowdley 2005 - Gastroenterology: C282Y\/C282Y cirrhotics \u2192 HCC in 30 % over 10 years \u2192 risk \u00d720-200 \u00d7 general non-cirrhotic population \u2192 HCC in HH occurs almost exclusively in cirrhotics \u2192 iron depletion prior to cirrhosis reduces risk \u2192 HCC risk persists after depletion if cirrhosis is established \u2192 HCC screening recommended (EASL + AASLD + SCC): in all cirrhotic HH \u2192 abdominal ultrasound + AFP \u2192 every 6 months \u2192 even if ferritin normalized by phlebotomies + if non-cirrhotic + normalized ferritin + C282Y\/C282Y \u2192 very low HCC risk \u2192 less intensive monitoring + HCC aggravating factors on HH: alcohol + HCV + HBV + steatosis + diabetes \u2192 treat simultaneously; cardiac repercussions - initial assessment: ECG (rhythm disorders + BAV) + transthoracic echocardiography: LVEF + diastole + dilated cardiomyopathy \u2192 if severe cardiac involvement \u2192 cardiac MRI: quantification of myocardial iron \u2192 cardiac T2* <20 ms \u2192 significant cardiac overload \u2192 priority treatment (risk of sudden death) \u2192 in HH type 1: cardiac involvement less severe than in juvenile hemochromatoses type 2 + endocrine repercussions: hormone assessment if symptoms: testosterone + LH + FSH + TSH + basal cortisol \u2192 replacement therapy if hypogonadism + osteoporosis (DXA) + arthropathy: hand X-rays (chondrocalcinosis + MCP 2-3 joint pinching)<\/td>\n <\/tr>\n <tr>\n <td>Therapeutic phlebotomy \u2014 standard treatment<br><small style=\"font-weight:400;color:#7a8fa0;\">Phlebotomy \u2014 450 mL = 200\u2013250 mg Fe \u2014 induction phase \u2014 maintenance phase \u2014 targets \u2014 monitoring<\/small><\/td>\n <td>Principle and rationale of phlebotomies: each 450 mL bloodletting removes 200-250 mg of iron (contained in RBCs) \u2192 production of new RBCs mobilizes iron from hepatic reserves and macrophages \u2192 progressive depletion of iron reserves \u2192 1 phlebotomy\/week \u2192 depletion of 1-2 g Fe\/month \u2192 for a patient with 20-30 g excess iron reserves \u2192 duration of induction phase: 2-3 years \u2192 protective mechanism: reduction in hepatic oxidative stress \u2192 slowing or regression of fibrosis \u2192 reduced risk of HCC \u2192 improvement in cardiomyopathy and diabetes if not irreversible; induction phase (depletion): weekly 450 mL phlebotomies \u2192 monitoring: ferritin every 4-6 bleeds \u2192 CBC before each phlebotomy (hemoglobin \u226511-12 g\/dL before each bleed) \u2192 end-of-induction goal: ferritin \u226450 \u00b5g\/L (some centers aim for \u226420-30 \u00b5g\/L) \u2192 transferrin saturation <45 % \u2192 variable duration depending on initial reserves: ferritin 500 \u00b5g\/L \u2192 ~6-12 months + ferritin 3,000 \u00b5g\/L \u2192 ~2-4 years \u2192 Brissot 2011 - European Journal of Gastroenterology and Hepatology: reversibility of lesions under phlebotomy: fibrosis (early stages) \u2192 improvement or regression + cardiomyopathy \u2192 often reversible if not advanced + diabetes \u2192 partial improvement + arthropathy \u2192 LITTLE reversible (least improved by treatment) + melanoderma \u2192 slow improvement + hypogonadism \u2192 partially reversible + CHC \u2192 reduced risk if cirrhosis prevented; maintenance phase: once ferritin \u226450 \u00b5g\/L \u2192 reduce phlebotomy frequency \u2192 4-6 times\/year \u2192 often 1 phlebotomy every 2-3 months \u2192 for life (disease is genetic + absorption remains excessive) \u2192 maintenance monitoring: ferritin + CBC + ST \u2192 every 3 months for the first year \u2192 then semi-annually \u2192 maintenance ferritin target: 50-100 \u00b5g\/L (some guides: 50-150 \u00b5g\/L) \u2192 do not aim for martial deficiency (ferritin <12 \u00b5g\/L) \u2192 risk of anemia + tolerance of phlebotomies: generally excellent \u2192 rare side effects: mild post-phlebotomy fatigue + lipothymia \u2192 prevent with hydration before and after + in some centers \u2192 therapeutic blood donation: phlebotomies can be performed in blood banks (H\u00e9ma-Qu\u00e9bec) \u2192 blood can be used for transfusion under certain conditions (\u00abautologous\u00bb blood or pool according to local rules)<\/td>\n <td>Evidence on the efficacy of phlebotomies and prognosis under treatment: Niederau 1996 - NEJM: cohort of 251 patients with HH treated with phlebotomies \u00d7 14 years \u2192 normal survival in non-cirrhotic, non-diabetic patients treated before complications \u2192 reduced survival in cirrhotics \u2192 conclusion: early treatment before cirrhosis = excellent prognosis + Falize 2006 - Gastroenterology: phlebotomies \u2192 histological improvement of fibrosis in 30 % of early cirrhotics \u2192 no improvement in advanced cirrhosis \u2192 Adams 2010 - Journal of Hepatology: iron depletion \u2192 59 % reduction in HCC risk vs. untreated patients in an Australian cohort + Beaton 2019 - Hepatology Communications: phlebotomies \u2192 improvement in liver stiffness (FibroScan) over 2 years; HCC on hemochromatosis - management: monitoring of HH cirrhotics \u2192 if HCC detected at early stage (BCLC 0-A) \u2192 surgical resection or radiofrequency ablation \u2192 liver transplantation if decompensated cirrhosis \u00b1 HCC \u2192 transplantation definitively corrects iron overload (transplanted liver produces normal hepcidin) \u2192 monitor recurrent post-transplant hyperferritinemia if C282Y\/C282Y recipient + wild-type donor; contraindications or difficulties with phlebotomies: severe anemia (<10 g\/dL) + decompensated cardiomyopathy \u2192 alternative erythrocytapheresis (removes RBCs without plasma loss \u2192 more effective per session) + iron chelators (IV deferoxamine or PO deferasirox): reserved for patients intolerant of phlebotomy \u2192 less effective than phlebotomy \u2192 high cost \u2192 side effects (deferasirox nephrotoxicity + deferoxamine ocular\/auditory toxicity) \u2192 treatment of comorbidities: total alcohol abstinence (potentiates fibrosis + HCC) + treatment of diabetes + treatment of hypogonadism (TRT if indicated) + management of arthropathy (NSAIDs + infiltrations + orthopedic surgery if severe) + vitamin C supplementation not recommended at high doses (vitamin C mobilizes iron from deposits \u2192 risk of abrupt release of unbound iron \u2192 acute oxidative stress \u2192 arrhythmias) \u2192 dietary advice: avoid iron supplements \u2192 avoid excess red meat \u2192 alcohol: total abstinence if liver damage \u2192 avoid vitamin C supplements \u2192 strong tea: natural iron chelator (tannins) \u2192 may slightly reduce absorption \u2192 no strict diet but avoid excesses<\/td>\n <\/tr>\n <tr>\n <td>Differential diagnosis - non-HH hyperferritinemia and secondary forms<br><small style=\"font-weight:400;color:#7a8fa0;\">NAFLD \u2014 alcohol \u2014 inflammation \u2014 transfusions \u2014 aceruloplasminemia \u2014 African iron overload<\/small><\/td>\n <td>Hyperferritinemia - non-genetic causes (most frequent in practice): inflammatory syndrome (ferritin = acute phase reagent): CRP elevated + fibrinogen + ferritin elevated + ST normal \u2192 do not genotype if CRP very high \u2192 wait for resolution of inflammation + metabolic syndrome and NAFLD\/NASH: most frequent cause of hyperferritinemia in clinical practice \u2192 abdominal obesity + insulin resistance + hepatic steatosis \u2192 elevated ferritin (up to 1,000-2,000 \u00b5g\/L) + normal or moderately elevated ST (25-40 %) \u2192 non-HFE \u2192 treatment: weight loss + exercise + treatment of T2DM \u2192 ferritin decreases without phlebotomy \u2192 Bacon 2011 - Gastroenterology: NAFLD + elevated ferritin \u2192 accelerated hepatic fibrolysis but moderate intrahepatic iron \u2192 no HH \u2192 chronic alcoholism: hepatic cytolysis \u2192 release of cellular ferritin + stimulation of synthesis by ethanol \u2192 ferritin up to 5,000-10,000 \u00b5g\/L + ST often elevated by hepatocyte damage \u2192 distinguish from HH \u2192 HFE genotyping + abstinence 3-6 months \u2192 reassessment \u2192 hemolysis and intravascular hemolysis: hemolysis \u2192 hemoglobin release \u2192 catabolism \u2192 iron + ferritin \u2192 hemolytic anemia + elevated LDH + collapsed haptoglobin + bilirubin + acute hepatic cytolysis (fulminant hepatitis + hepatic ischemia): massive release of ferritin \u2192 ferritin >50,000-100,000 \u00b5g\/L \u2192 diagnosis evident in clinical picture + multiple transfusions: transfusional hemosiderosis \u2192 iron in splenic + hepatic macrophages \u2192 MRI: splenic + hepatic overload + no HFE mutation + aceruleoplasminemia (very rare): CPL mutation \u2192 absence of ceruloplasmin \u2192 defect in Fe\u00b2\u207a oxidation \u2192 intracellular accumulation \u2192 very high ferritin + low ceruloplasmin + microcytic anemia + neurological involvement \u2192 MRI: iron in basal ganglia + cerebellum + liver + pancreas + hyperferritinemia-cataract syndrome (HHCS): mutation of the IRE gene of the L-ferritin gene \u2192 no iron overload \u2192 ferritin elevated in serum BUT normal in tissues \u2192 normal ST \u2192 early bilateral cataract \u2192 no martial therapy required \u2192 important: do not treat hyperferritinemia of inflammatory or metabolic origin with phlebotomies.<\/td>\n <td>Non-HFE forms - rare genetic hemochromatoses: juvenile hemochromatosis (type 2A - HJV + type 2B - HAMP) : severe overload before age 30 \u2192 cardiomyopathy + arrhythmias + severe hypogonadism + early cirrhosis \u2192 non-HFE genotype + T2* cardiac MRI + complete hormonal workup \u2192 intensive phlebotomies (2-3\/week initially) + if severe cardiomyopathy \u2192 emergency IV deferoxamine + hemochromatosis type 3 (TFR2): similar to type 1 but often more severe + hemochromatosis type 4 (SLC40A1 - ferroportin disease): type 4A: accumulation in macrophages + high ferritin + normal ST + anemia on phlebotomies (poor tolerance) \u2192 type 4B: similar to type 1 \u2192 hepcidin resistance + iron accumulation disease in macrophages (Type 4A): phlebotomies are more difficult (rapid anemia) \u2192 less frequent bleeding; heminoplasmin and new treatments under evaluation for severe non-HFE forms: minihepcidin (peptide analogues of hepcidin): in phase 2 \u2192 reduce iron absorption \u2192 potential in refractory juvenile hemochromatosis + matriptase 2 inhibitors (TMPRSS6): increase endogenous hepcidin production \u2192 clinical trials underway + siRNAs targeting ferroportin: in development \u2192 no approved treatment yet beyond phlebotomy and chelation therapy in severe forms<\/td>\n <\/tr>\n <\/tbody>\n <\/table>\n\n <div class=\"co-infobox\">\n <span class=\"ico\">\u2139\ufe0f<\/span>\n <span><strong>Fasting transferrin saturation is the first marker to rise in hereditary hemochromatosis:<\/strong> A repeated fasting transferrin saturation (TSAT) of \u226545% %, in the absence of acute inflammation, should trigger HFE genotyping. Ferritin alone, often elevated for inflammatory or metabolic reasons, is not sufficient for diagnosis. If genotyping confirms C282Y\/C282Y, phlebotomy should be started even in an asymptomatic patient, as early treatment before cirrhosis reduces mortality to that of the general population.<\/span>\n <\/div>\n\n <div class=\"co-urgence\">\n <div class=\"co-urgence-titre\">Situations requiring urgent medical assessment<\/div>\n <p><strong>Acute heart failure + severe arrhythmias (rapid AFib + complete AV block) in a man under 40 with no known heart disease + very high ferritin<\/strong> Juvenile hemochromatosis type 2 or HFE hemochromatosis with advanced cardiomyopathy \u2192 Urgent hospitalization \u2192 Emergency cardiac MRI (cardiac T2*) \u2192 IV deferoxamine if T2* <10 ms \u2192 Delayed phlebotomies until cardiac stabilization \u2192 Heart transplantation as a last resort.<\/p>\n <p><strong>Discovery of a liver nodule \u22651 cm on surveillance ultrasound in a known cirrhotic with HH<\/strong> \u2192 Suspected HCC \u2192 Emergency hepatic MRI with gadolinium contrast (wash-in + wash-out) \u2192 if HCC confirmed BCLC 0\u2013A \u2192 multidisciplinary discussion (resection + ablation + transplantation) \u2192 do not delay characterization imaging.<\/p>\n <p><strong>Ferritin >5,000 \u00b5g\/L + ST >70 % + severe hepatic cytolysis (ALT >10x normal) + decreased TP + elevated bilirubin + confusion<\/strong> \u2192 acute liver failure due to severe iron overload or decompensated HH cirrhosis \u2192 urgent hospitalization \u2192 liver failure assessment + transplant center contact + treatment of encephalopathy + absolute abstinence from alcohol + evaluation for liver transplant indication (MELD \u226515\u201320).<\/p>\n <p><strong>Siblings of a C282Y\/C282Y proposer with detected TS \u226560 % + asymptomatic ferritin 3000 \u00b5g\/L<\/strong> \u2192 Unexplained advanced overload \u2192 Not an immediate life-threatening emergency, but rapid evaluation by hepatology \u2192 Hepatic MRI (iron overload + fibrosis) + organ evaluation \u2192 Start phlebotomies without delay \u2192 The earlier the management, the more reversible the lesions are.<\/p>\n <\/div>\n\n <h2>Consult at Clinique Omicron<\/h2>\n <p>Clinique Omicron physicians prescribe and interpret the complete iron panel \u2014 transferrin saturation, ferritin \u2014 for the screening and monitoring of hereditary hemochromatosis, coordinate HFE genotyping, manage the initial treatment and follow-up of therapeutic phlebotomies, and refer patients to hepatology or internal medicine for complex cases or those with significant organ damage. Consultations are available at several service points in Quebec and via telemedicine. To book an appointment, visit <a href=\"https:\/\/cliniqueomicron.ca\">cliniqueomicron.ca<\/a>.<\/p>\n\n <p class=\"co-disclaimer\">The content of this page is provided for informational purposes only and does not substitute for medical advice from a physician or hepatologist. Any persistent hyperferritinemia or elevated transferrin saturation requires a comprehensive medical evaluation to determine the cause before considering treatment.<\/p>\n<\/div>\n<\/body>\n<\/html>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron H\u00e9patologie & M\u00e9decine interne & M\u00e9decine de famille & G\u00e9n\u00e9tique m\u00e9dicale H\u00e9mochromatose h\u00e9r\u00e9ditaire L’h\u00e9mochromatose h\u00e9r\u00e9ditaire (HH) est la maladie g\u00e9n\u00e9tique autosomique r\u00e9cessive la plus fr\u00e9quente dans les populations d’origine nord-europ\u00e9enne, caract\u00e9ris\u00e9e par une absorption intestinale excessive du fer alimentaire conduisant \u00e0 son accumulation progressive… <a href=\"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/\" rel=\"bookmark\">Read More \"<span class=\"screen-reader-text\">Hereditary Hemochromatosis: Diagnosis, HFE Mutations, and Treatment | Clinique Omicron<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"neve_meta_sidebar":"","neve_meta_container":"","neve_meta_enable_content_width":"off","neve_meta_content_width":100,"neve_meta_title_alignment":"","neve_meta_author_avatar":"","neve_post_elements_order":"","neve_meta_disable_header":"","neve_meta_disable_footer":"","neve_meta_disable_title":"","_themeisle_gutenberg_block_has_review":false,"_metasync_otto_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","_metasync_otto_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","_metasync_otto_keywords":"","_metasync_otto_og_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","_metasync_otto_og_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","_metasync_otto_twitter_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","_metasync_otto_twitter_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","rank_math_title":"","rank_math_description":"","_yoast_wpseo_title":"","_yoast_wpseo_metadesc":"","_aioseo_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron","_aioseo_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu\u00e9bec.","_metasync_seo_title":"","_metasync_seo_desc":"","_metasync_breadcrumb_title":"","_metasync_primary_category":0,"_metasync_primary_product_cat":0,"_metasync_otto_disabled":"","_metasync_hreflang":"","_metasync_plugin_sync_ts":"{\"aioseo\":\"2026-05-04T21:54:10+00:00\"}","_metasync_robots_advanced":"","footnotes":""},"class_list":["post-24633","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t<meta name=\"description\" content=\"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...\" \/>\n\t<meta name=\"robots\" content=\"max-snippet:1, max-image-preview:large, max-video-preview:1\" \/>\n\t<meta name=\"google-site-verification\" content=\"yYDMZv-nme7Cg-KrW5GmEWceBTrCDv8zhSkkXdJSnyM\" \/>\n\t<meta name=\"msvalidate.01\" content=\"3225E6935FC4F40C7DDCE56C37141BA8\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 4.9.10\" \/>\n\t\t<meta property=\"og:locale\" content=\"en_US\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinique Omicron - Clinique M\u00e9dicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron\" \/>\n\t\t<meta property=\"og:description\" content=\"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/\" \/>\n\t\t<meta property=\"og:image\" content=\"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg\" \/>\n\t\t<meta property=\"og:image:secure_url\" content=\"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2026-03-01T02:54:16+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-03-12T17:00:05+00:00\" \/>\n\t\t<meta property=\"article:publisher\" content=\"https:\/\/facebook.com\/Clinique Omicron\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:site\" content=\"@Clinique%20Omicron\" \/>\n\t\t<meta name=\"twitter:title\" content=\"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron\" \/>\n\t\t<meta name=\"twitter:description\" content=\"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...\" \/>\n\t\t<meta name=\"twitter:creator\" content=\"@Clinique%20Omicron\" \/>\n\t\t<meta name=\"twitter:image\" content=\"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg\" \/>\n\t\t<script type=\"application\/ld+json\" class=\"aioseo-schema\">\n\t\t\t{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#breadcrumblist\",\"itemListElement\":[{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en#listItem\",\"position\":1,\"name\":\"Accueil\",\"item\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#listItem\",\"name\":\"H\\u00e9mochromatose h\\u00e9r\\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#listItem\",\"position\":2,\"name\":\"H\\u00e9mochromatose h\\u00e9r\\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron\",\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en#listItem\",\"name\":\"Accueil\"}}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#webpage\",\"url\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/\",\"name\":\"H\\u00e9mochromatose h\\u00e9r\\u00e9ditaire : | Brossard | Clinique Omicron\",\"description\":\"L'h\\u00e9mochromatose h\\u00e9r\\u00e9ditaire est une surcharge en fer li\\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\\u00e9botomies et prise en charge au Qu...\",\"inLanguage\":\"en-CA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/#website\"},\"breadcrumb\":{\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/hemochromatose\\\/#breadcrumblist\"},\"datePublished\":\"2026-02-28T22:54:16-04:00\",\"dateModified\":\"2026-03-12T13:00:05-04:00\"},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/#website\",\"url\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/\",\"name\":\"Clinique Omicron\",\"description\":\"Clinique M\\u00e9dicale\",\"inLanguage\":\"en-CA\",\"publisher\":{\"@id\":\"https:\\\/\\\/cliniqueomicron.ca\\\/en\\\/#organization\"}}]}\n\t\t<\/script>\n\t\t\r\n\t\t<title>H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron<\/title>\n\n","aioseo_head_json":{"title":"Hereditary Hemochromatosis: | Brossard | Clinique Omicron","description":"Hereditary hemochromatosis is iron overload linked to HFE mutations. Ferritin, transferrin saturation, phlebotomies, and management in Quebec...","canonical_url":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/","robots":"max-snippet:1, max-image-preview:large, max-video-preview:1","keywords":"","webmasterTools":{"google-site-verification":"yYDMZv-nme7Cg-KrW5GmEWceBTrCDv8zhSkkXdJSnyM","msvalidate.01":"3225E6935FC4F40C7DDCE56C37141BA8","miscellaneous":""},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"BreadcrumbList","@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#breadcrumblist","itemListElement":[{"@type":"ListItem","@id":"https:\/\/cliniqueomicron.ca\/en#listItem","position":1,"name":"Accueil","item":"https:\/\/cliniqueomicron.ca\/en","nextItem":{"@type":"ListItem","@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#listItem","name":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron"}},{"@type":"ListItem","@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#listItem","position":2,"name":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron","previousItem":{"@type":"ListItem","@id":"https:\/\/cliniqueomicron.ca\/en#listItem","name":"Accueil"}}]},{"@type":"WebPage","@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#webpage","url":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/","name":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","inLanguage":"en-CA","isPartOf":{"@id":"https:\/\/cliniqueomicron.ca\/en\/#website"},"breadcrumb":{"@id":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/#breadcrumblist"},"datePublished":"2026-02-28T22:54:16-04:00","dateModified":"2026-03-12T13:00:05-04:00"},{"@type":"WebSite","@id":"https:\/\/cliniqueomicron.ca\/en\/#website","url":"https:\/\/cliniqueomicron.ca\/en\/","name":"Clinique Omicron","description":"Clinique M\u00e9dicale","inLanguage":"en-CA","publisher":{"@id":"https:\/\/cliniqueomicron.ca\/en\/#organization"}}]},"og:locale":"en_US","og:site_name":"Clinique Omicron - Clinique M\u00e9dicale","og:type":"article","og:title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","og:description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","og:url":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/","og:image":"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg","og:image:secure_url":"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg","article:published_time":"2026-03-01T02:54:16+00:00","article:modified_time":"2026-03-12T17:00:05+00:00","article:publisher":"https:\/\/facebook.com\/Clinique Omicron","twitter:card":"summary_large_image","twitter:site":"@Clinique%20Omicron","twitter:title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","twitter:description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","twitter:creator":"@Clinique%20Omicron","twitter:image":"https:\/\/cliniqueomicron.ca\/wp-content\/uploads\/2025\/12\/unnamed-1-e1765579964732.jpg"},"aioseo_meta_data":{"post_id":"24633","title":"Hereditary Hemochromatosis: | Brossard | Clinique Omicron","description":"Hereditary hemochromatosis is iron overload linked to HFE mutations. Ferritin, transferrin saturation, phlebotomies, and management in Quebec...","keywords":null,"keyphrases":{"focus":{"keyphrase":"h\u00e9mochromatose","score":75,"analysis":{"keyphraseInTitle":{"score":9,"maxScore":9,"error":0},"keyphraseInDescription":{"score":9,"maxScore":9,"error":0},"keyphraseLength":{"score":9,"maxScore":9,"error":0,"length":2},"keyphraseInURL":{"score":5,"maxScore":5,"error":0},"keyphraseInIntroduction":{"score":9,"maxScore":9,"error":0},"keyphraseInSubHeadings":{"score":3,"maxScore":9,"error":1},"keyphraseInImageAlt":[],"keywordDensity":{"type":"high","score":0,"maxScore":9,"error":1}}},"additional":[]},"primary_term":null,"canonical_url":null,"og_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","og_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","og_object_type":"default","og_image_type":"default","og_image_url":null,"og_image_width":null,"og_image_height":null,"og_image_custom_url":null,"og_image_custom_fields":null,"og_video":"","og_custom_url":null,"og_article_section":null,"og_article_tags":null,"twitter_use_og":true,"twitter_card":"summary_large_image","twitter_image_type":"default","twitter_image_url":null,"twitter_image_custom_url":null,"twitter_image_custom_fields":null,"twitter_title":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : | Brossard | Clinique Omicron","twitter_description":"L'h\u00e9mochromatose h\u00e9r\u00e9ditaire est une surcharge en fer li\u00e9e aux mutations HFE. Ferritine, saturation de la transferrine, phl\u00e9botomies et prise en charge au Qu...","schema":{"blockGraphs":[],"customGraphs":[],"default":{"data":{"Article":[],"Course":[],"Dataset":[],"FAQPage":[],"Movie":[],"Person":[],"Product":[],"ProductReview":[],"Car":[],"Recipe":[],"Service":[],"SoftwareApplication":[],"WebPage":[]},"graphName":"WebPage","isEnabled":true},"graphs":[]},"schema_type":"default","schema_type_options":null,"pillar_content":false,"robots_default":false,"robots_noindex":false,"robots_noarchive":false,"robots_nosnippet":false,"robots_nofollow":false,"robots_noimageindex":false,"robots_noodp":false,"robots_notranslate":false,"robots_max_snippet":"1","robots_max_videopreview":"1","robots_max_imagepreview":"large","priority":null,"frequency":"default","local_seo":null,"seo_analyzer_scan_date":"2026-04-24 08:54:32","breadcrumb_settings":null,"limit_modified_date":false,"reviewed_by":null,"open_ai":null,"ai":{"faqs":[],"keyPoints":[],"titles":[],"descriptions":[],"socialPosts":{"email":[],"linkedin":[],"twitter":[],"facebook":[],"instagram":[]}},"created":"2026-03-01 03:35:42","updated":"2026-05-04 17:54:10"},"aioseo_breadcrumb":"<div class=\"aioseo-breadcrumbs\"><span class=\"aioseo-breadcrumb\">\n\t<a href=\"https:\/\/cliniqueomicron.ca\/en\" title=\"Accueil\">Accueil<\/a>\n<\/span><span class=\"aioseo-breadcrumb-separator\">\u203a<\/span><span class=\"aioseo-breadcrumb\">\n\tH\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron\n<\/span><\/div>","aioseo_breadcrumb_json":[{"label":"Accueil","link":"https:\/\/cliniqueomicron.ca\/en"},{"label":"H\u00e9mochromatose h\u00e9r\u00e9ditaire : diagnostic, mutations HFE et traitement | Clinique Omicron","link":"https:\/\/cliniqueomicron.ca\/en\/hemochromatose\/"}],"_links":{"self":[{"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/pages\/24633","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/comments?post=24633"}],"version-history":[{"count":4,"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/pages\/24633\/revisions"}],"predecessor-version":[{"id":29632,"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/pages\/24633\/revisions\/29632"}],"wp:attachment":[{"href":"https:\/\/cliniqueomicron.ca\/en\/wp-json\/wp\/v2\/media?parent=24633"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}