title: Prevalence of HFE mutations in people from North Africa living in southern France.
abstract: The two main mutations of the HFE (haemochromatosis) gene, C282Y and H63D, were found previously to be rare or absent among Africans. Dried blood samples of 1276 newborns from southern France were analysed for both HFE mutations, and the origins of the four grandparents of each newborn were recorded. The allele frequency of C282Y and H63D was 3.0% +/- 0.7% and 16.9% +/- 1.5% respectively. In a subgroup of 171 newborns with four North African ancestries (mainly from Morocco and Algeria) the allele frequency was 0.9%+2.5%-0.2% for the C282Y and 13.2% +/- 3.6% for H63D. HFE mutations are not absent in individuals with North African origins living in southern Europe. This finding has implications for the diagnosis and screening of hereditary haemochromatosis in these populations.
authors.affiliation: Laboratory of Haematology, Hôpital Saint-Eloi, Avenue Bertin Sans, 34295 Montpellier cedex 5, France. p-martinez@chu-montpellier.fr
authors.forename: P
authors.initials: P
authors.lastname: Aguilar-Martinez
authors.forename: M C
authors.initials: MC
authors.lastname: Picot
authors.forename: F
authors.initials: F
authors.lastname: Becker
authors.forename: P
authors.initials: P
authors.lastname: Boulot
authors.forename: F
authors.initials: F
authors.lastname: Montoya
authors.forename: P
authors.initials: P
authors.lastname: Mares
authors.forename: B
authors.initials: B
authors.lastname: Bachelard
authors.forename: Y
authors.initials: Y
authors.lastname: Henry
authors.forename: J L
authors.initials: JL
authors.lastname: Delarbre
authors.forename: P
authors.initials: P
authors.lastname: Sarda
authors.forename: J F
authors.initials: JF
authors.lastname: Schved
mesh_terms: D000352:Africa, Northern / Q000208:ethnology; D005602:France; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening