title: Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?
abstract: Hemochromatosis (GH) is an inborn error of iron metabolism, characterized by progressive iron loading that, if untreated, causes high morbidity and death. The gene responsible for the disease (HFE), located 4.5 megabases telomeric to the HLA-A locus, encodes a protein homologous to class I MHC molecules. A main mutation, C282Y, has been identified within the gene. Although hemochromatosis is considered as the most frequent inherited disease in the populations of Northern European origin, its prevalence in Brittany had not been evaluated yet. In this issue we report the C282Y mutation frequency in a cohort of 1000 newborns from maternity hospitals of the four breton départements. The homozygote frequency was 5/1000 and heterozygote frequency was 12%; such high frequencies raise the question of the penetrance of the disease and the relevance of systematic genotypic screening for hemochromatosis.
authors.affiliation: Service de Génétique Moléculaire et Hormonologie, CHU Pontchaillou, Rennes, France.
authors.forename: A M
authors.initials: AM
authors.lastname: Jouanolle
authors.forename: P
authors.initials: P
authors.lastname: Fergelot
authors.forename: M L
authors.initials: ML
authors.lastname: Raoul
authors.forename: G
authors.initials: G
authors.lastname: Gandon
authors.forename: M
authors.initials: M
authors.lastname: Roussey
authors.forename: Y
authors.initials: Y
authors.lastname: Deugnier
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.forename: J Y
authors.initials: JY
authors.lastname: Le Gall
authors.forename: V
authors.initials: V
authors.lastname: David
mesh_terms: D000483:Alleles; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005602:France / Q000453:epidemiology; D005787:Gene Frequency; D005805:Genes, MHC Class I; D006580:Genetic Carrier Screening; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000453:epidemiology* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins; D019683:Penetrance; D015995:Prevalence
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins