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Bull Acad Natl Med. 2000;184(2):325-35; discussion 335-6.

[Genetic hemochromatosis and the HFE gene].

[Article in French]

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Clinique des Maladies du Foie, Hôpital Pontchaillou, Rennes.


The discovery of the HFE gene has lead to considerable improvement in the understanding and the management of genetic hemochromatosis. More than 90% of well-defined patients are homozygous for the C282Y mutation, and genetic testing has become an important diagnostic tool. The significance of the other mutations in the HFE gene remain controversial: only C282Y/H63D compound heterozygotes could present with a phenotype compatible with hemochromatosis, but with a mild expression and a low penetrance. The link between iron overload and HFE mutation is explained by the interaction between HFE protein, beta-2-microglobulin and transferrin receptor, which is abolished by the C282Y mutation, but is not yet fully understood.

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