[Molecular basis in hereditary haemochromatosis].

Abstract excerpt

PURPOSE: Recent discoveries in molecular mechanisms of iron metabolism have changed the classical view of hereditary iron overload conditions. We present natural mutations in newly discovered genes and related phenotypes observed in patients with different form of haemochromatosis. CURRENT KNOWLEDGE AND KEY POINTS: Most haemochromatosis patients are homozygous for the C282Y mutation in the HFE gene. Ferroportin,...

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