Article
Clinical penetrance of C282Y homozygous HFE hemochromatosis.
Expert review of hematology - 1 Dec 2008
Rossi Enrico, Olynyk John K, Jeffrey Gary P
Abstract excerpt
Following the discovery of the HFE gene, it became apparent that C282Y homozygous HFE hemochromatosis is the most common autosomal recessive genetic disorder in populations of northern European descent, where it attains a maximum prevalence of approximately 1 in 200. Cross-sectional studies have revealed that the clinical penetrance of symptoms of iron-loading disease is relatively low and highly variable....
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