[Hereditary hemochromatosis: molecular diagnosis and effect of treatment].

Abstract excerpt

Hereditary hemochromatosis is a genetic disorder, inherited as an autosomal recessive trait, characterized by iron overload. A single mutation (C282Y) in the HFE gene is found in more than 90% of these patients. We report the case of a 50-year-old man, with clinical symptoms of hemochromatosis, who was found to be homozygous for the C282Y mutation. We present the results of therapeutic phlebotomy after one year...

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