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Hereditary haemochromatosis — RACP Written MCQ

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EasyGastroenterology/HepatologyHereditary haemochromatosisRACP Written

A 51-year-old man has fatigue, arthralgia and abnormal liver enzymes. Ferritin is 1,100 microgram/L, transferrin saturation is 68% and HFE testing shows C282Y homozygosity. What is the most appropriate management?

Educational content. Not a substitute for clinical judgement or local policy.

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Correct answer: A — Regular venesection

C282Y homozygous haemochromatosis with iron overload is treated with therapeutic venesection to deplete iron stores.

Reference: Therapeutic Guidelines: Gastrointestinal; Gastroenterological Society of Australia guidance