Histocompatibility antigens and haemochromatosis in Ireland

Abstract

Twenty patients with primary idiopathic haemochromatosis were tissue typed. HLA-A3 and B7 were increased in frequency. The significance of these findings in relation to other studies is assessed.

HLA haplotypes associated with hemochromatosis mutations in the Spanish population

“…The HLA-A3/B7 haplotype was reported in HH patients in many European and populations of European descent [5-8] but HLA-A3/B14, HLA-A3/B35 and others were also reported [9-11]. The predominance of the HLA-A3 associated haplotypes on hemochromatosis chromosomes, and the pattern of their distribution in the world, led Simon et al [5] to propose the founder hypothesis, postulating that the hemochromatosis mutation was a rare event that occurred once on a particular chromosome which was subsequently modified by recombinations involving both HLA-B and HLA-A alleles and population migrations, producing the varied haplotype associations that were described.…”

An HLA‐All Assoiciation with the hemochromatosis allele?

“…Here P is not corrected for the number of antigens theoretically tested; however, such a condition is essential only when all the antigens tested share the same chance of being increased or decreased. This is not the case in the present study, as testing specifically for All is justified after a review of the literature where it is stated that in eight studies, dealing with at least 10 cases, All frequencies were decreased in only two series (Lipinski et al 1978a, Kuhnl et al 1978 whereas they were increased in four (Henke 8z Ungar 1978, McCarthy et al 1979, Doran et al 1981, Saddi et al 1981, including the two 2-A3 frequency in controls 2-A3 frequency in hemochromatosis observed frequency x = expected frequency 2-0.28 7 2-0.726 or 0 . 1 2 4~ ~ --0.167.…”

Epidemiologie genetique de l hemochromatose au Saguenay

“…Ces conclusions ont par la suite été appuyées par la découverte en France d'une association entre l'hémochromatose et le complexe HLA (Simon et al, 1975), association confirmée plus tard dans d'autres populations ( Llyod et al, 1978;Kuhnl et al, 1978;McCarthy et al, 1979;Doran et al, 1981;Cragg et al, 1988;Milman et al, 1988).…”

“…Avec les traitements, l'espérance de vie après le diagnostic est d'environ cinq à dix ans, mais les malades peuvent aussi vivre plus de vingt ans après l'apparition des premiers symptômes (Bothwell, 1979 (Simon et al, 1975). Cette association préférentielle a été confirmée par la suite par d'autres chercheurs dans plusieurs populations (Lipinski et al, 1978;Doran et al, 1981;Edwards et al, 1981) (Llyod et al, 1978;Kuhnl et al, 1978;McCarthy et al, 1979;Edwards et al, 1982;Simon et al, 1987a;Milman et al, 1988 (Lalouel et al, 1985).…”