Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population

Recently a candidate gene for hereditary hemochromatosis, HFE, was identifi ed. The finding raises the possibility for genetic testing to provide earli er detection and more complete genotypic evaluation of hemochromatosis affe cted individuals. We determined the frequency of the HFE polymorphisms, C28 2Y and H63D, in a randomly selected multi-ethnic control population for est ablishment of a hemochromatosis genetic testing program. Prevalence was det ermined by PCR amplification and restriction enzyme digestion of HFE in 100 Caucasians, 100 Hispanics, and 56 African Americans. Heterozygosity for C2 82Y was detected in 8% of Caucasians, 3% of Hispanics, and 2% of African Am ericans. Homozygosity for C282Y was detected in 1% of Caucasians. Heterozyg osity for H63D was detected in 24% of Caucasians, 15% Hispanics, and 3.5% o f African Americans. Homozygosity for H63D was present in 4% of Caucasians and 1% of Hispanics. One Hispanic case was double heterozygous for C282Y an d H63D. These results indicate the highest prevalence of C282Y and H63D in the Caucasian population. Additionally, we demonstrate C282Y and H63D polym orphisms in our Hispanic and African American populations, groups in which prevalence rates remain less defined. Our results support the need for thor ough interpretation of genetic results for hereditary hemochromatosis in va rious ethnic populations.