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- W2215203759 abstract "The C282Y polymorphism of the HFE gene on chromosome 6p21.3 is the most common known human mutation that has a marked effect on iron absorption and homeostasis. Approximately 12% of Caucasians of northern or western European descent living in Europe or in derivative countries such as the US, Canada, Australia, or New Zealand are simple heterozygotes for C282Y, and they outnumber C282Y homozygotes in these populations by approximately 25:1. In the US alone, approximately 20 million whites are C282Y heterozygotes. If iron-related organ injury or another deleterious allele on C282Y-bearing chromosome 6p haplotypes were to occur in C282Y heterozygotes, the number of individuals at potential risk is great. This has led to an interest in defining: (a) the iron phenotype and any related iron or liver morbidity of C282Y heterozygotes and their management; (b) the optimal means to identify C282Y heterozygotes and to estimate their prevalence in populations; and (c) the association of C282Y with various non-iron-related disorders. History The HFE C282Y mutation arose in northwestern Europe, perhaps in the Neolithic Age. The original C282Y mutation probably occurred on a chromosome 6 haplotype characterized by human leukocyte antigens (HLA)-A*03, B*07, and by the marker allele D6S105(8). C282Y spread with various population movements, especially Viking migrations. Many C282Y homozygotes alive today have one or two copies of the ancestral haplotype. Likewise, all C282Y heterozygotes have inherited a common HFE polymorphism, but also much or all of an ancestral chromosome with its other component genes and alleles, the effects of which must be considered in understanding fully the effects of C282Y heterozygosity." @default.
- W2215203759 created "2016-06-24" @default.
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- W2215203759 creator A5077060961 @default.
- W2215203759 creator A5085072333 @default.
- W2215203759 date "2011-07-20" @default.
- W2215203759 modified "2023-09-27" @default.
- W2215203759 title "Heterozygosity for HFE C282Y" @default.
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- W2215203759 doi "https://doi.org/10.1017/cbo9780511777035.011" @default.
- W2215203759 hasPublicationYear "2011" @default.
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