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Prevalence of HFE Mutations

The C282Y mutation is common in the Caucasian population, especially in people of northern European descent. Approximately 10% of Caucasian Americans are heterozygous carriers of a single C282Y mutation.(11) A greater percentage are carriers of the H63D mutation, but this mutation is much less clinically significant.
HH appears to be most prevalent among people in the Northern British Isles--Scotland, Ireland and Great Britain--who are of Celtic descent. Persons of Celtic descent in the United States, Australia, and France also have a relatively high incidence of HH. Approximately 1 out of 250 individuals in the United States are homozygous for the C282Y mutation, although the number with a clinical diagnosis of HH is lower. The prevalence of HFE mutations in African-Americans and Hispanic-Americans is low.