HLA-A and -B alleles and haplotypes in hemochromatosis probands with <it>HFE</it> C282Y homozygosity in central Alabama

Abstract

Abstract Background We wanted to quantify HLA-A and -B allele and haplotype frequencies in Alabama hemochromatosis probands with HFE C282Y homozygosity and controls, and to compare results to those in other populations. Methods Alleles were detected using DNA-based typing (probands) and microlymphocytotoxicity (controls). Results Alleles were determined in 139 probands (1,321 controls) and haplotypes in 118 probands (605 controls). In probands, A*03 positivity was 0.7482 (0.2739 controls; p =p Conclusions A*03 and A*03-B*07 frequencies are increased in Alabama probands, as in other hemochromatosis cohorts. Increased absolute frequencies of A*03-B*35 have been reported only in the present Alabama probands and in hemochromatosis patients in Italy. Increased absolute frequencies of A*01-B*60, A*02-B*39, A*02-B*62, A*03-B*13, A*03-B*15, A*03-B*27, A*03-B*44, A*03-B*47, and A*03-B*57 in hemochromatosis cohorts have not been reported previously.

Keywords

• allele
• ancestral haplotype
• haplotype
• <it>HFE</it>
• HLA
• hemochromatosis
• iron
• iron overload
• population genetics