C282Y and H63D mutations in the HFE gene have no effect on iron overload disorders in Japan

Objective The gene responsible for hereditary hemochromatosis close to the human leukocyte antigen A locus was previously identified and designated as HFE. This study was performed to evaluate the clinical significance of two mutations, C282Y and H63D of HFE, in Japanese patients with hepatic iron o verload. Patients and Methods We examined C282Y and H63D in 11 patients with primary hemochromatosis, 94 patients with chronic hepatitis C, 54 patients with mi scellaneous liver diseases, and 151 healthy volunteers. The HFE gene region of DNA samples extracted from peripheral leukocytes was amplified by polym erase chain reaction. Restriction enzyme analysis was performed using SnaBI for C282Y and BclI for H63D. Direct sequence analysis was then performed w hen products suggested the presence of a mutation. Results All the subjects studied were free from C282Y. None of the patients with hemochromatosis had H63D. One patient with chronic hepatitis C was ho mozygous, and 4 patients were heterozygous for H63D. Two patients with alco holic liver disease were heterozygous for H63D. The prevalence of chromosom es with H63D was 6/188 (3.2%) in patients with chronic hepatitis C, 2/108 ( 1.9%) in patients with miscellaneous liver diseases, and 8/302 (2.6%) in he althy volunteers. These differences were not significant. Conclusion Our results suggested that neither C282Y nor H63D in HFE affect Japanese patients with hemochromatosis or chronic hepatitis C.