[Clinical and genetic aspects of hereditary hemochromatosis].

Abstract excerpt

Hereditary hemochromatosis (HH) is an autosomal recessive disease in which increased iron absorption causes iron overload and irreversible tissue damage. As laboratory parameters for measuring HH lack specificity, and HH remains asymptomatic for a long time, methods for genetic screening are highly valuable. Mutations in two genes, hfe and TfR2, have recently been found to be responsible for HH. The mutation...

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