Frequencies in the Japanese population of HFE gene mutations.

We studied the frequencies of C282Y and H63D mutations in the HFE gene, thought to be responsible for hereditary hemochromatosis (HH), in 504 chromosomes obtained from 252 unrelated Japanese. Allele-specific PCR and PCR-restriction fragment length polymorphism methods revealed that the C282Y mutation was not found and the H63D mutation was low in frequency (at only 0.99%) compared with data from European people. Since most HH is thought to be associated with the HFE gene mutation, the low incidence of these mutations is a likely reason for the rarity of this disease in the Japanese population.