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Hemochromatosis with HFE gene mutation in a Japanese patient

T Sohda1, R Okubo, S Kamimura

  • 1Third Department of Internal Medicine, School of Medicine, Fukuoka University, Japan.

A case of hemochromatosis associated with HFE gene mutation has never been previously reported in a Japanese patient. A 65-yr-old Japanese woman presenting with primary hemochromatosis underwent HFE mutation analyses, which demonstrated a C282Y mutation, this being the definitive gene mutation of Caucasian hemochromatosis.

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