HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama.

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, A03 positivity was 0.7482 (0.2739 controls; p = or < 0.0001; odds ratio (OR) 7.9); positivity for B07, B14, and B56 was also increased. In probands, haplotypes A03-B07 and A03-B14 were more frequent (p < 0.0001, respectively; OR = 12.3 and 11.1, respectively). The haplotypes A01-B60, A02-B39, A02-B62, A03-B13, A03-B15, A03-B27, A03-B35, A03-B44, A03-B47, and A03-B57 were also significantly more frequent in probands. 37.3% of probands were HLA-haploidentical with other proband(s).

CONCLUSIONS

A03 and A03-B07 frequencies are increased in Alabama probands, as in other hemochromatosis cohorts. Increased absolute frequencies of A03-B35 have been reported only in the present Alabama probands and in hemochromatosis patients in Italy. Increased absolute frequencies of A01-B60, A02-B39, A02-B62, A03-B13, A03-B15, A03-B27, A03-B44, A03-B47, and A03-B*57 in hemochromatosis cohorts have not been reported previously.