title: Frequency of the hemochromatosis gene (HFE) 282C-->Y, 63H-->D, and 65S-->C mutations in a general Mediterranean population from Tarragona, Spain.
abstract: Three mutations have recently been detected in the hereditary hemochromatosis HFE gene (282C-->Y, 63H-->D, and 65S-->C). To determine their prevalence in a northeastern Spanish Mediterranean population, we studied 812 subjects between 18 and 75 years of age, randomly selected from the electoral roll of three villages. There were no homozygotes for the 282C-->Y or S65D mutations in this sample. For the 63H-->D mutation, 4.8% were homozygotes; 4.3, 32.3, and 2% were heterozygotes for the 282C-->Y, 63H-->D, and 65S-->C mutations, respectively. The prevalence of compound heterozygotes was 2% for 282C-->Y/63H-->D and 0.6% for 63H-->D /65S-->C. We found no significant differences between men and women. In conclusion, 46% of this Mediterranean population of Spain are carriers of at least one of the three mutations that can increase iron absorption.
authors.affiliation: Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Rovira i Virgili University, Reus, Spain.
authors.forename: Núria
authors.initials: N
authors.lastname: Aranda
authors.forename: Fernando E
authors.initials: FE
authors.lastname: Viteri
authors.forename: Joan
authors.initials: J
authors.lastname: Fernández-Ballart
authors.forename: Michelle
authors.initials: M
authors.lastname: Murphy
authors.forename: Victoria
authors.initials: V
authors.lastname: Arija
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D019083:Mediterranean Region; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D013030:Spain
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron