Geography Of HFE C282Y And H63D Mutations - PubMed

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Abstract

Hereditary hemochromatosis (HH) is a common autosomal recessive disorder causing inappropriate dietary iron absorption that affects North Europeans. HH is associated with the C282Y mutation of the HFE gene, and the H63D mutation to a lesser degree. Both mutations are abundant in Europe, with H63D also appearing in North Africa, the Middle East, and Asia. Emigration from Europe over the past 500 years has introduced C282Y and H63D to America, Australia, New Zealand, and South Africa in an essentially predictable fashion. The distinctive characteristics of the population genetics of HH are the confined racial distribution and high frequency in North European peoples. C282Y frequencies in North Europeans are typically between 5% and 10%, with homozygotes accounting for between 1/100 and 1/400 of these populations. The scarcity of the C282Y mutation in other populations accounts for the lack of HH in non-Europeans.

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  • Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. Bittencourt PL, Palácios SA, Couto CA, Cançado EL, Carrilho FJ, Laudanna AA, Kalil J, Gayotto LC, Goldberg AC. Bittencourt PL, et al. Braz J Med Biol Res. 2002 Mar;35(3):329-35. doi: 10.1590/s0100-879x2002000300007. Braz J Med Biol Res. 2002. PMID: 11887210
  • Genetic hemochromatosis, a Celtic disease: is it now time for population screening? Byrnes V, Ryan E, Barrett S, Kenny P, Mayne P, Crowe J. Byrnes V, et al. Genet Test. 2001 Summer;5(2):127-30. doi: 10.1089/109065701753145583. Genet Test. 2001. PMID: 11551098
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  • A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis. Gokcan H, Oz DK, Bodakci E, Tunc E, Idilman R. Gokcan H, et al. Hepatol Forum. 2024 Jul 2;5(3):161-164. doi: 10.14744/hf.2024.2024.0020. eCollection 2024. Hepatol Forum. 2024. PMID: 39006143 Free PMC article.
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