title: Geography of HFE C282Y and H63D mutations.
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.
authors.affiliation: MRC Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, UK. alison@hammer.imm.ox.ac.uk
authors.forename: A T
authors.initials: AT
authors.lastname: Merryweather-Clarke
authors.forename: J J
authors.initials: JJ
authors.lastname: Pointon
authors.forename: A M
authors.initials: AM
authors.lastname: Jouanolle
authors.forename: J
authors.initials: J
authors.lastname: Rochette
authors.forename: K J
authors.initials: KJ
authors.lastname: Robson
mesh_terms: D004641:Emigration and Immigration; D005828:Genetics, Population; D005843:Geography; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000208:ethnology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins