title: Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain).
abstract: For centuries in Europe, population movements have contributed to ethnic groups, cultures, and consequently, inheritance mixing. There are certain genetic diseases such as hereditary hemochromatosis whose distribution is directly related to the population movements. The objective of the present investigation was to determine the C282Y and H63D mutation frequency of the HFE gene in a cohort study of 1,000 neonates in the Community of Madrid (Spain), thus contributing to the HFE gene mutations distribution research in Europe and establishing the origin of the mutations in Spain. The allelic frequency of C282Y mutation was 1.7% (CI 95% 1.1-2.3) and the H63D allele was present in 16.4% of chromosomes (CI 95% 14.8-18). In Spain, the presence of C282Y mutation and its distribution could be due more to Celtic than to Viking legacy, whereas it is assumed that the one in relation to the H63D variant occurred in the Basque Country during the Paleolithic Period.
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Clinico San Carlos, Madrid, Spain.
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero
authors.forename: Olga
authors.initials: O
authors.lastname: Briceño
authors.forename: Marta
authors.initials: M
authors.lastname: Mateo
authors.forename: Marta
authors.initials: M
authors.lastname: Polo
authors.forename: Asunción
authors.initials: A
authors.lastname: Mora
authors.forename: Fernando Ataulfo
authors.initials: FA
authors.lastname: González
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
mesh_terms: D000483:Alleles; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005828:Genetics, Population; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D013030:Spain
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins