Multicentric Origin of Hemochromatosis Gene (HFE) Mutations

  • Rochette J
  • Pointon J
  • Fisher C
 et al. 
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Abstract

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

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Authors

  • J. Rochette

  • J.J. Pointon

  • C.A. Fisher

  • G. Perera

  • M. Arambepola

  • D. S. Kodikara Arichchi

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