MUTATION ANALYSIS OF THE HFE GENE ASSOCIATED WITH HEREDITARY HEMOCHROMATOSIS IN AFRICAN-AMERICANS

Homozygosity for the mutation Cys282Tyr in the HFE gene has recently b een identified as a cause of hereditary hemochromatosis, a disorder re sulting in the inappropriate absorption of iron, Approximately 10% of Caucasians are heterozygous for this mutation; however, the gene frequ ency in African Americans is unknown. A study of a control population of African Americans was performed to determine the frequency of the C ys282Tyr and His63Asp alleles in this ethnic group. The carrier freque ncy for each mutant allele in our African American population was 3,0% , DNA studies of four African-American hemochromatosis patients did no t identify any individuals with the Cys282Tyr allele. These findings s uggest that if the Cys282Tyr mutation confers susceptibility to hemoch romatosis in Caucasians las suggested by recent studies) there is an a lternative mechanism for hemochromatosis in the American black populat ion. Am. J, Hematol, 58:213-217, 1998, (C) 1998 Wiley-Liss, Inc.