Hereditary haemochromatosis — MCCQE Part 1 MCQ

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ModerateFatigueHereditary haemochromatosisMCCQE Part 1

A 40-year-old man has fatigue, arthralgia, elevated ALT/AST, fasting transferrin saturation 65%, ferritin 1200. Most appropriate next step?

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Correct answer: B — HFE gene mutation analysis

Elevated transferrin saturation >45% + elevated ferritin: test for hereditary haemochromatosis. HFE C282Y/H63D analysis is confirmatory. Phlebotomy after diagnosis.

Reference: CASL