Article
Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018
Grosse Scott D, Gurrin Lyle C, Bertalli Nadine A, Allen Katrina J
Abstract excerpt
Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are...
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