A team from Georgia and Maryland, USA investigated the prevalence of the hemochromatosis (HFE) gene mutations C282Y and H63D in the US population.
Genotyped samples of cells from a total of 5,171 subjects, cross-classified by sex, age, and race/ethnicity in the analysis, were included in the study. All samples were from the DNA bank from the Phase 2 of the Third National Health and Nutrition Examination Survey, conducted between 1992 and 1994.
The prevalence of C282Y homozygosity was estimated to be 0.3%; 1.9% for H63D homozygosity; and 2.0% for compound heterozygosity.
The prevalence estimates for C282Y heterozygosity (C282Y/wild type) were 9.5% among non-Hispanic Whites, 2.3% among non-Hispanic Blacks, and 2.6% among Mexican-Americans.
The C282Y mutation prevalence was found to be 5.4% in the US population. The H63D mutation had a prevalence of 13.5%.
Dr Karen Steinberg, of the National Center for Chronic Disease Prevention and Health Promotion, Chamblee, Georgia, said on behalf of fellow authors, "Estimates of prevalence of HFE mutations are within the expected range for non-Hispanic Whites and Blacks. However, the estimated prevalence of the C282Y mutation among Mexican-Americans is less than expected."
"Mutation data now need to be linked to clinically relevant indices, such as transferrin saturation level," she concluded.