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Compound Heterozygote HH — RACP Adult Medicine MCQ

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ModerateGastroenterologyCompound Heterozygote HHRACP Adult Medicine

A 30-year-old man is screened for haemochromatosis because his father was diagnosed with C282Y homozygous HH. HFE genotyping shows C282Y/H63D compound heterozygosity. TSAT is 35% and ferritin is 150 μg/L. LFTs are normal. He has no symptoms. What is the most appropriate management?

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Correct answer: E — Repeat iron studies in 6 months

C282Y/H63D compound heterozygosity has a very low penetrance for clinically significant iron overload (<1-2%). With normal TSAT and ferritin, this patient does NOT require treatment. Monitor with annual iron studies. Venesection is only indicated if iron studies become elevated. Most compound heterozygotes never develop clinical haemochromatosis.

Reference: GESA – 2024 – Haemochromatosis; European Haemochromatosis Consortium 2024