Prevalence of heterozygotes for hemochromatosis in the white population of the United States

In previous studies, the prevalence of HLA-linked hemochromatosis, thought to be the most common genetic illness in whites, has been estimated by identifying homozygotes in the population. Because not all homozygotes express the disease phenotypically, the accuracy of these estimates is uncertain. We analyzed the distribution of transferrin saturation values in the second National Health and Nutrition Examination Survey to estimate the prevalence of hemochromatosis heterozygotes in the US population. After removing values for possible homozygotes, two populations were present (P < .01 for each gender). When weighted to reflect the US adult white male population as a whole, a proportion of 850 per 1,000 (95% confidence interval, 0.81 to 0.89) were included in a population with a lower mean saturation of 29.7% (29.1% to 30.3%), whereas 150 per 1,000 (0.11 to 0.19) comprised a population with a higher mean saturation of 47.0% (45.1% to 49.0%). Similar results were found for the female population. The gene frequencies were estimated to be 0.081 from the male population and 0.070 from the female population corresponding to prevalences of homozygotes of 6.6 and 4.8 per 1,000, respectively. Our results confirm that the gene for hemochromatosis is common.