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Most clinical cases of hereditary hemochromatosis occur in people who are homozygous for the C282Y mutation in the HFE gene; people who are “compound heterozygotes” (i.e., heterozygous for each of 2 mutations, C282Y and H63D) also can develop clinical disease. Although these mutations are common in many white populations, the penetrance of hemochromatosis — the likelihood that genetically affected people will develop clinically evident disease — is unclear.
Using stored blood samples that were collected in the early 1990s, researchers screened 30,000 Australians of northern European ancestry for mutations associated with hemochromatosis. One in 146 screened subjects was a C282Y homozygote, and 1 in 42 was a compound heterozygote. Then, an av…