Idiopathic hemochromatosis: linkage with HLA.
Forty-eight unrelated patients with idiopathic hemochromatosis were found to have a significantly higher frequency of three HLA antigens (A3, B7 and B14) than 591 healthy controls. A significant association between HLA haplotypes and disease segregations was demonstrated in 14 family studies. A recessive inheritance of a strongly A3-linked disease gene responsible for abnormal iron stores in the heterozygote state is postulated. The lod score value (4.415 for theta = 0.025) is compatible with this hypothesis. However, the excess of HLA-identical pairs of affected sibs does not exclude the possibility of a pseudo-recessiveness due to two codominant genes both HLA-linked. For the first time, a means of screening for high risk subjects is available and therefore offers the possibility of a preventive approach.
D005799:Genes, Dominant; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics; D006238:Haploidy; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D012306:Risk
D006680:HLA Antigens