Hemochromatosis: a "simple" genetic trait.
With the discovery of the causative gene, the disorder stands revealed as America's single most common mendelian disease. Unlike other genetic diseases, it is already curable. Indeed, genetic screening makes it potentially preventable. Yet a finding of disease-related genotype can also lead to stigmatization. Hemochromatosis therefore presents the issues surrounding genetic testing in especially stark form.
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Oregon Health Sciences University School of Medicine, Portland, USA.
D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005805:Genes, MHC Class I / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins