title: Association of HFE mutations (C282Y and H63D) with iron overload in blood donors from Mexico City.
abstract: OBJECTIVE
  Iron overload has been associated with HFE mutations (C282Y and H63D). We investigated the association between these mutations and high serum ferritin in a sample of healthy adult men.
  
  
  METHODS
  We enrolled unrelated blood donors from three hospitals in Mexico City in a crosssectional study. Serum ferritin (SF) was determined to define iron overload, and HFE gene mutations were identified by PCR-RFLP.
  
  
  RESULTS
  We evaluated 2524 male blood donors and included 246 individuals for each group. We identified 108 individuals with HFE gene mutation, 20.5 % were heterozygote (wt/H63D or wt/C282Y) and the remaining homozygote (H63D/ H63D). The genotype wt/C282Y was observed in two cases, none cases with C282Y/C282Y. The allelic frequency of H63D and C282Y was 0.115 and 0.002, respectively. We observed different association for H63D allele with iron overload (OR 1.54, CI 95 %1.16-2.03) and none in allele C282Y. Although values averages were different, the extreme dispersion of serum ferritin not showed statistically significant differences between H63D and C282Y alleles and ferritin concentrations.
  
  
  CONCLUSIONS
  The male unrelated blood donors from Mexico City with iron overload prevalence of 13.8% hold similarities with other populations from Europe o America continent, respecting the allele frequency H63D. Nevertheless, allele frequency C282Y is lower than that observed in descendents from northern Europe. We have not observed statistic difference of SF or iron overload frequency by effect of both alleles.
authors.affiliation: Hematología Perinatal, Instituto Nacional de Perinatología, Secretaría de Salud, México. baptista@infosel.net.mx
authors.forename: Héctor A
authors.initials: HA
authors.lastname: Baptista-González
authors.forename: Fany
authors.initials: F
authors.lastname: Rosenfeld-Mann
authors.forename: Rocío
authors.initials: R
authors.lastname: Trueba-Gómez
authors.forename: Luisa
authors.initials: L
authors.lastname: Bermejo-Martínez
authors.forename: Nahum
authors.initials: N
authors.lastname: Méndez-Sánchez
mesh_terms: D000293:Adolescent; D000328:Adult; D001782:Blood Donors; D003430:Cross-Sectional Studies; D004247:DNA / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008800:Mexico / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D012189:Retrospective Studies; D014505:Urban Population
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA