Analysis of HFE-Codon 63/282 (H63D/C282Y) gene variants in Mexican mestizos: Blood donors and patients with hereditary hemochromatosis

Background The prevalence of hereditary hemochromatosis (HH) (H63D/C282Y) g ene variants in Mexico is unknown. Methods. Using amplification refractory mutation system polymerase chain re action, an analysis of HFE-codon 63/282 (H63D/C282Y) gene variants was perf ormed in a group of 153 Mexican mestizo blood donors and six individuals wi th familial iron overload. Results. In normal blood donors, three heterozygotes for the C282Y mutation (2.0%) were found, whereas IS heterozygotes and one homozygote for the H63 D mutation (11.8% and 0.6%, respectively) were identified; there was one co mpound heterozygote for the C282Y/H63D mutation. These data resulted in all ele 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 fo und 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 over load associated with other conditions: one heterozygous f or C282Y infected with HH, and another heterozygous for H63D with heterozyg ous 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 phenotyp e, neither of the two mutations was recorded. (C) 2000 IMSS. Published by E lsevier Science Inc.