Article
Mutation analysis in hereditary hemochromatosis.
Blood cells, molecules & diseases - 1 Jan 1996
Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti C P, Phatak P D, Seese N K, Chorney K A, Ten Elshof A E, Gerhard G S, Chorney M
Abstract excerpt
The DNA of 147 patients of European origin clinically diagnosed with idiopathic hemochromatosis and 193 controls was examined for mutations of the HLA-H gene at nt 845 and nt 187. One hundred twenty-one (82.3%) of the hemochromatosis patients were homozygous and 10 (6.8%) heterozygous for the 845A (C282Y) mutation. All of the homozygous patients were also homozygous for nt 187C, and all 845A heterozygotes had at...
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