Hemochromatosis Gene Variants in Three Different Ethnic Populations

Genetic testing for hemochromatosis may have important implications for diagnosis and screening of the disease. However, the relative importance of mutations in the gene for hereditary hemochromatosis, HFE, may vary among populations, when the mutant allele frequencies and their penetrance in a particular genetic and environmental background are taken into account. We present data on the allele and genotype frequencies and population structure of two HFE genetic variants in three different ethnic groups from a highly mixed urban population (São Paulo, Brazil). Allele frequencies for both the C282Y and H63D HFE mutations showed significant differences among the studied populations (for the C282Y mutation, Euro-Brazilian 3.7%, admixed 0.7%, Afro-Brazilian 0.5%; and for the H63D mutation, Euro-Brazilian 20.3%, admixed 13.0%, Afro-Brazilian 6.4). The data substantiate a European origin for these mutations. Furthermore, they provide a basis for a more rational strategic planning of population screening programs for the disease

Allele · Allele frequency · Biology · Disease · Environmental health · Gene · Genotype · Hemochromatosis · Hereditary hemochromatosis · Mutation · Penetrance · Phenotype · Population · Genetics · Hemoglobinopathies and Related Disorders · Internal Medicine · Iron Metabolism and Disorders · Medicine · Trace Elements in Health

• Performing the Exact Test of Hardy-Weinberg Proportion for Multiple Alleles

  Sun‐Wei Guo, Sun Wei Guo et al.•Biometrics•1992

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