Article
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.
The New England journal of medicine - 12 Dec 1996
Bulaj Z J, Griffen L M, Jorde L B, Edwards C Q, Kushner J P
Abstract excerpt
BACKGROUND: Ten percent of whites are heterozygous for the HLA-linked hemochromatosis mutation. We performed a cross-sectional analysis of 1058 genotyped heterozygotes to define the effects of age and sex on the phenotype. METHODS: The heterozygous genotype was assigned to 505 male and 553 female members of 202 pedigrees, each with an HLA-typed homozygous proband. We measured serum iron, transferrin saturation,...
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