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
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.