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HFE Haemochromatosis Treatment — RACP Adult Medicine MCQ

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EasyGastroenterologyHFE Haemochromatosis TreatmentRACP Adult Medicine

A 45-year-old man is found to have elevated transferrin saturation (TSAT 65%) and ferritin 1200 μg/L on routine bloods. He has no symptoms. LFTs are mildly elevated. He has Celtic ancestry. HFE genotyping shows C282Y homozygosity. What is the most appropriate next step?

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Correct answer: C — Start therapeutic venesection

Confirmed C282Y homozygosity with elevated TSAT (>45%) and elevated ferritin (>300 in men, >200 in women) confirms hereditary haemochromatosis requiring treatment. Therapeutic venesection (500 mL/1 unit weekly until ferritin <50-100 μg/L) is first-line. Liver biopsy or FerriScan is used to assess iron overload severity and fibrosis — not mandatory before starting treatment but guides prognosis. Screen first-degree relatives.

Reference: GESA – 2024 – Haemochromatosis; HA-GI Guidelines