Hemochromatosis

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Bronze skin, diabetes, cirrhosis, arthropathy, cardiomyopathy

Calculators:
  1. Best initial: ↑Transferrin saturation (>45%, often >80%) + ↑ferritin
  2. Confirm: HFE gene (C282Y) / liver MRI
  3. Treat: Serial phlebotomy; deferoxamine/deferasirox if unable to phlebotomize

Order set

  • Transferrin saturation + ferritin
  • HFE genotype
  • LFTs, glucose
  • Liver imaging ± biopsy if ferritin very high

Criteria

AdmitDecompensated liver/cardiac disease
DischargeVenesection plan, screening of relatives, surveillance
Clinical detail — differentials, red flags, pitfalls, disposition
Red flags
  • Cirrhosis
  • Cardiomyopathy
  • Diabetes
Differentials
  • Secondary iron overload
  • NAFLD
  • Alcoholic liver disease
Common mistakes
  • Missing family screening
  • Attributing ↑ferritin to inflammation only
Disposition & follow-up

Venesection; screen relatives; HCC surveillance if cirrhotic.

Discharge package
Medications
Follow-upVenesection programme; HCC surveillance if cirrhotic
LifestyleAvoid alcohol, iron/vitamin-C supplements
Warning symptomsJaundice, abdominal swelling, heart symptoms
💊 Treatment detail — doses & preparation
Weekly venesectiondefinitive
Dose450 mL blood removed weekly until ferritin <50 µg/L, then maintenance 3–4×/yr
PreparationLarge-bore needle, 15 min
MonitorFerritin + transferrin saturation q3 mo
Deferasiroxiron chelator
Dose10–30 mg/kg OD (transfusion overload)
Preparation90–360 mg tablets on empty stomach
MonitorCreatinine, LFTs monthly; GI upset, rash
📖 AASLD HaemochromatosisReviewed July 2026

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