Article
Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients.
Blood cells, molecules & diseases - 1 Jan 2000
Phatak Pradyumna D, Ryan Daniel H, Cappuccio Joseph, Oakes David, Braggins Caroline, Provenzano Kim, Eberly Shirley, Sham Ronald L
Abstract excerpt
Two HFE gene mutations, C282Y and H63D, underlie the vast majority of cases of hereditary hemochromatosis. We performed a cross-sectional primary care-based study to determine the allele frequency of the C282Y and H63D mutations and the penetrance of each of the affected genotypes defined by their presence. Patients had previously undergone transferrin saturation (TS) testing. A total of 4865 unselected frozen...
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