Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.
OBJECTIVE
Two unrelated African Americans had hemochromatosis phenotypes and genotypes. We sought to identify origins of their HFE mutations and estimate frequencies of similar cases.


METHODS
HFE and HLA genotyping were performed in index cases and family members. HFE genotypes of 1,373 African American controls in five regions were tabulated.


RESULTS
Index cases had C282Y/C282Y and C282Y/H63D, respectively; each corresponding Ch6p was likely of Caucasian origin. In controls, frequencies of hemochromatosis-associated genotypes were as follows: C282Y/C282Y, 0.00011; C282Y/H63D, 0.00067; and H63D/H63D, 0.00101.


CONCLUSIONS
Penetrance-adjusted estimates indicate that approximately 9 African Americans per 100,000 have a hemochromatosis phenotype and two common HFE mutations. Hemochromatosis-associated genotype frequencies varied 11.7-fold across regions.
Barton
J C
JC
Southern Iron Disorders Center, Birmingham, Alabama, USA.
Acton
R T
RT
D000328:Adult; D001741:Black or African American; D000483:Alleles; D044383:Black People / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics*; D006239:Haplotypes; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019190:Iron Overload / Q000235:genetics; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D014481:United States
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins