Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry. In northwestern Europe, >80% of GH patients are homozygous for one mutation, the substitution of tyrosine for cysteine at position 282 (C282Y) in the unprocessed protein. In a proportion of GH patients, two mutations are present, C282Y and H63D. The clinical significance of this second mutation is such that it appears to predispose 1%-2% of compound heterozygotes to expression of the disease. The distribution of the two mutations differ, C282Y being limited to those of northwestern European ancestry and H63D being found at allele frequencies >5%, in Europe, in countries bordering the Mediterranean, in the Middle East, and in the Indian subcontinent. The C282Y mutation occurs on a haplotype that extends
CITATION STYLE
Rochette, J., Pointon, J. J., Fisher, C. A., Perera, G., Arambepola, M., Kodikara Arichchi, D. S., … Robson, K. J. H. (1999). Multicentric origin of hemochromatosis gene (HFE) mutations. American Journal of Human Genetics, 64(4), 1056–1062. https://doi.org/10.1086/302318
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