title: Analysis of HFE-codon 63/282 (H63D/C282Y) gene variants in mexican mestizos. Blood donors and patients with hereditary hemochromatosis.
abstract: BACKGROUND
  The prevalence of hereditary hemochromatosis (HH) (H63D/C282Y) gene variants in Mexico is unknown.
  
  
  METHODS
  Using amplification refractory mutation system polymerase chain reaction, an analysis of HFE-codon 63/282 (H63D/C282Y) gene variants was performed in a group of 153 Mexican mestizo blood donors and six individuals with familial iron overload.
  
  
  RESULTS
  In normal blood donors, three heterozygotes for the C282Y mutation (2.0%) were found, whereas 18 heterozygotes and one homozygote for the H63D mutation (11.8% and 0.6%, respectively) were identified; there was one compound heterozygote for the C282Y/H63D mutation. These data resulted in allele frequencies of 0.013 (+/-0. 2%, alpha = 0.05) and 0.062 (+/-0.9%, alpha = 0.05), respectively, for these two mutations, results similar to those found in whites. In the six patients with the HH phenotype, two were found to be heterozygous for C282Y and one heterozygous for H63D; three individuals with HH had no gene mutations. Two heterozygous HH individuals were found to have iron overload associated with other conditions: one heterozygous for C282Y infected with HIV, and another heterozygous for H63D with heterozygous beta-thalassemia.
  
  
  CONCLUSIONS
  The prevalence of C282Y and H63D HFE gene mutations in Mexican mestizos is similar to that found in other populations. In addition, other gene mutations responsible for HH in the Mexican mestizo population should be investigated, because, in three of six individuals with the HH phenotype, neither of the two mutations was recorded.
authors.affiliation: Centro de Hematología y Medicina Interna de Puebla, Puebla, Mexico. gruizl@prodigy.net.mx
authors.forename: G J
authors.initials: GJ
authors.lastname: Ruiz-Argüelles
authors.forename: J
authors.initials: J
authors.lastname: Garcés-Eisele
authors.forename: T
authors.initials: T
authors.lastname: Gelbart
authors.forename: M
authors.initials: M
authors.lastname: Monroy-Barreto
authors.forename: V
authors.initials: V
authors.lastname: Reyes-Núñez
authors.forename: J L
authors.initials: JL
authors.lastname: Juárez-Morales
authors.forename: M
authors.initials: M
authors.lastname: de Lourdes González-Garrido
authors.forename: F J
authors.initials: FJ
authors.lastname: Ramírez-Cisneros
authors.forename: D
authors.initials: D
authors.lastname: Gallegos-Antúnez
mesh_terms: D001782:Blood Donors; D003062:Codon; D005006:Ethnicity / Q000235:genetics*; D030342:Genetic Diseases, Inborn; D014644:Genetic Variation; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D008800:Mexico; D016297:Mutagenesis, Site-Directed
chemical_list: D003062:Codon; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins