HLA Antigens and Hereditary Hemorrhagic Telangiectasia

Abstract

HLA antigens (27 HLA alleles of the A and B loci) were determined in 20 subjects of the same family, covering three generations; 6 of them were suffering from hereditary hemorrhagic telangiectasia. The haplotype HLA A2, Bw17 was found in all the sufferers. The same haplotype was not found in clinically healthy members except two of the generation III, but a visceral angiomatosis without clinical evidence cannot be excluded. An association of hereditary hemorrhagic telangiectasia with the haplotype HLA A2, Bw17 can be suspected in this family.

Hereditary hemorrhagic telangiectasy (HHT) and HLA

“…These results about linkage between HLA and HHT, although lacking statistical significance, could be of interest considering that HLA linkage was previously suggested by Kissel et al (1977), without conclusive evidence, however.…”

“…HHT has to date (McAlpine et al 1985) eluded chromosomal assignment and only two non-conclusive studies, suggesting possible linkage with ABO (Bird et al 1957) and HLA (Kissel et al 1977), were reported. This led us to pursue the possibility of linkage between 10 genetic markers (ABO, Lu, K, P, Le, Jk, Rh, Fy, MNSs, HLA) and HHT in a family with 7 affected members.…”