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  • Title: [Genetic hemochromatosis and the HFE gene].
    Author: Moirand R.
    Journal: Bull Acad Natl Med; 2000; 184(2):325-35; discussion 335-6. PubMed ID: 10989541.
    Abstract:
    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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