Source: http://www.faseb.org/genetics/ashg/ann-meet/ashgmeet.htm

Frequency of the hemochromatosis associated mutations C282Y and H63D in Argentina. F.F. Fay¹, M.E. Campodonico¹, M. Taborda¹, G. Revelant¹, H. Tanno², M. Lopez³, O.H. Fay⁴. 1) Dept Molecular Biol, CIBIC, Rosaro, Argentina; 2) Hospital Centenario, Rosario; 3) CAC-ALAC, Corrientes; 4) CTSP-UNR, Rosario.
   Background: In north-European populations Hereditary Hemochromatosis (HH) is caused in 90-100% of the cases, by two common mutations of the HFE gene, and affects 1 in 300 individuals. However, lower mutation prevalences were found in different ethnic groups. Objectives: To determine the prevalence of the HFE gene HH associated mutations (C282Y and H63D) in the general Argentine population. Methods: Three hundred and fifty unrelated healthy subjects were studied for the C282Y and H63D mutations. DNA was extracted from blood EDTA samples. Mutations detection was performed using a multiplex - ARMS test. Genotypic results were correlated with serum iron and transferrin saturation (TS) levels. A group of 21 clinically diagnosed HH patients, was also studied for those mutations. Results: We found that 13 out of 350 subjects (3.7%) were heterozygous for the C282Y mutation; no homozygotes were found; 97 out of 350 subjects (27.7%) were H63D heterozygous and eleven were homozygous (3.1%). Only three subjects (0.9%) were heterozygous for both mutations (compound heterozygotes). The observed frequencies are consistent with those predicted by the Hardy-Weimberg equation. Genotypic-phenotypic correlation showed that the H63D homozygotes have a significantly higher TS mean value compared with wild type subjects (p=0.007). In the HH group, 7 out of 21 (33.3%) were C282Y homozygotes, 5 out of 21 (23.8%) were H63D homozygotes, and no compound heterozygotes were found. Conclusions:. We found a lower prevalence of the C282Y mutation, compared with that observed in other caucasian populations. According to our observations, the carrier frequency for C282Y is 1 in 27 with an expected homozygous frequency of 1 in 2800 in the general population. Our findings are in accordance with published data, taking into consideration that our population is a mixture of Spanish, Italians, a lower degree of Portugueses, native Indians and other minor ethnic groups. Regarding the H63D , our findings suggest that the H63D mutation alone, could have a role in iron overload development in our population.