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Gastroenterology and Hepatology›Condition·Updated Jun 27, 2026·v1

Hemochromatosis

Hemochromatosis is a group of genetic iron-overload disorders caused by hepcidin deficiency, leading to progressive iron deposition in the liver, heart, pancreas, joints, and skin. The HFE C282Y mutation accounts for most cases in European-ancestry populations. Diagnosis relies on elevated fasting transferrin saturation and serum ferritin, confirmed by HFE genotyping. The cornerstone of management is therapeutic phlebotomy to achieve ferritin <50 μg/L, with pantoprazole as an adjunct to reduce phlebotomy frequency. Early treatment before ferritin exceeds 1000 μg/L prevents cirrhosis, diabetes, and cardiomyopathy, and normalizes life expectancy. Liver transplantation cures the hepatic defect and is indicated for decompensated cirrhosis or early HCC. Lifelong surveillance for HCC (in patients with advanced fibrosis) and diabetes is essential.

High Evidence143 references·14,843 words·60 min read·v1
hemochromatosisiron overloadHFEphlebotomycirrhosishepatocellular carcinomaferritintransferrin saturation

Quick Reference

RxDrug of choiceTherapeutic phlebotomy (500 mL every 1-2 weeks until ferritin <50 μg/L, then maintenance every 2-4 months to keep ferritin <100 μg/L and TSAT <50%).
AltAlternativesDeferasirox (10 mg/kg/day PO) for patients intolerant of phlebotomy (avoid in Child-Pugh B/C cirrhosis); pantoprazole (40 mg/day) as adjunct to reduce phlebotomy frequency.
⊘AvoidAvoid iron supplementation, vitamin C, and non-dihydropyridine CCBs (diltiazem, verapamil).
DxTest of choiceFasting transferrin saturation (TSAT >45% in women, >50% in men) plus serum ferritin; confirm with HFE genotyping (C282Y).
ScKey scoreSerum ferritin >1000 μg/L, strongest predictor of cirrhosis (OR 15.6); FIB-4 ≥2.67, AUROC 0.92 for advanced fibrosis (F3-F4).
→When to referRefer for liver transplantation evaluation when decompensated cirrhosis (Child-Pugh B/C, MELD ≥15) or early HCC (Milan criteria) is present.
Early detection through TSAT/ferritin screening and prompt phlebotomy to ferritin <50 μg/L can prevent all major complications; the key prognostic threshold is ferritin >1000 μg/L at diagnosis.
Hemochromatosis is a genetically heterogeneous iron-overload disorder driven by hepcidin deficiency, leading to unregulated intestinal iron absorption and toxic deposition in the liver, heart, pancreas, joints, and skin. The most common form, HFE-related (type 1), affects ~1 in 200-300 individuals of Northern European descent, with male predominance and incomplete penetrance. Early detection through fasting transferrin saturation and serum ferritin is critical, as therapeutic phlebotomy initiated before ferritin exceeds 1000 μg/L can prevent cirrhosis, diabetes, cardiomyopathy, and hepatocellular carcinoma, making hemochromatosis one of the few inherited conditions where near-complete morbidity is avoidable with simple, timely intervention.

Overview and Recommendations

Background

Evaluation

Management

Board Review — High Yield

  • •HFE C282Y homozygosity, accounts for ~90% of hereditary hemochromatosis cases in Northern European populations; penetrance is ~28-50% in men but only 1-5% in premenopausal women.
  • •Ferritin >1000 μg/L, single strongest predictor of cirrhosis (OR 15.6); 45% of such patients have bridging fibrosis or cirrhosis on biopsy.
  • •Fasting TSAT >45% (women) or >50% (men), earliest and most sensitive biochemical marker of iron loading; prompts HFE genotyping.
  • •Ferroptosis, iron-dependent, non-apoptotic cell death pathway (lipid peroxidation) driving hepatocellular injury in hemochromatosis; distinct from apoptosis.
  • •Type 4A ferroportin disease (SLC40A1 loss-of-function), autosomal dominant; high ferritin with normal TSAT; phlebotomy causes iatrogenic anemia and is poorly tolerated.
  • •Juvenile hemochromatosis (HJV or HAMP mutations), presents before age 30 with severe cardiomyopathy and hypogonadism; rapid progression to death by age 40 if untreated.
  • •Therapeutic phlebotomy, 500 mL every 1-2 weeks until ferritin <50 μg/L; maintenance every 2-4 months to keep ferritin <100 μg/L and TSAT <50%. NNT to prevent one death = 6 if started before ferritin >1000 μg/L.
  • •Pantoprazole 40 mg/day, reduces phlebotomy need by 33% by impairing intestinal iron absorption (Fe³+ to Fe²+ reduction).
  • •HCC surveillance, abdominal ultrasound every 6 months for all patients with cirrhosis (F4) or advanced fibrosis (F3); continue indefinitely even if fibrosis regresses.
  • •Liver transplantation, cures hepcidin deficiency (donor liver expresses normal HFE); 5-year survival ~77.5% (UNOS 2003-2019); outcomes comparable to other CLD etiologies.

Deep Dive — Evidence Details

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