Abstract

Hereditary hemochromatosis (HHC) is an autosomal recessive disorder that damages various organs because of the deposition of excess iron. At the human hemochromatosis (HFE) gene, two mutations of C282Y and H63D have been reported. The frequencies of C282Y and H63D mutations vary among ethnic groups. At present, the most suitable screening test for HHC is the assessment of transferrin saturation (TS). We investigated the distribution of TS and the frequencies of C282Y and H63D mutations among Koreans. TS was measured in 2152 subjects who visited the health promotion center for a checkup. The mean (±SD) of TS was 41.7±15.4%. We randomly selected 240 subjects and tested them for C282Y and H63D mutations using PCR-restriction fragment length polymorphism (RFLP). All 240 randomly selected samples were found to be G/G homozygous non-mutated for C282Y. Of the 240 subjects, 18 (7.5%) were found to be C/G heterozygous and 222 subjects were C/C homozygous non-mutated for H63D. In this study, the C282Y mutation was not found in the Korean population, and the H63D mutation showed allele frequency of 3.8%. The mean TS in this study was higher than that of Caucasians.