title: Prevalence of hemochromatosis gene (HFE) mutations in Greece.
abstract: The frequencies of the hereditary hemochromatosis gene (HFE) mutations C282Y and H63D vary between different populations. There are a limited number of reports regarding the frequency of these mutations in populations of southeastern Europe. Two hundred and sixty-four adult individuals of Greek origin were examined for the C282Y and H63D mutations to determine the allele and genotype frequencies. The HFE gene region of DNA samples extracted from peripheral leukocytes was amplified by the polymerase chain reaction. Restriction enzyme analysis was performed using RSAI for C282Y and MBOI for H63D. None of the 264 individuals carried the mutation C282Y. Forty-three individuals (16.2%) were heterozygous carriers of the H63D allele and 2 were homozygous for this mutation (0.75%). The overall H63D allele prevalence is thus estimated at 8.9%. HFE mutation frequencies were low in the population studied and this may explain, in part, the relative rarity of clinical cases of hereditary hemochromatosis in Greece.
authors.affiliation: Second Department of Internal Medicine, Democritus University of Thrace Medical School, Regional Hospital of Alexandroupolis, Alexandroupolis, Greece. dapap@otenet.gr
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Papazoglou
authors.forename: Triada
authors.initials: T
authors.lastname: Exiara
authors.forename: Matthaios
authors.initials: M
authors.lastname: Speletas
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: Efstratios
authors.initials: E
authors.lastname: Maltezos
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006115:Greece; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins