HLA Antigens and Haplotypes Associated with Idiopathic Haemochromatosis in Veneto: Peculiar Association with HLA-A3, B35

Abstract

HLA-A and HLA-B antigens were determined in 16 unrelated subjects orginating from Veneto affected by idiopathic haemochromatosis (IH). HLA-A3 was found in 13/16 patients vs. 300/1,348 controls (p < 0.00005). Prevalences of A3, B35 haplotype were 0.4375 in patients vs. 0.0816 in controls (p < 0.0005). Linkage disequilibrium analysis proved the existence of a positive third-order linkage disequilibrium among IH, HLA-A3 and HLA-B35 alleles. Our data confirm the close association of IH and HLA-A3 and prove the peculiar association of the disease with A3, B35 haplotype in north-eastern regions of Italy. The positive third-order linkage disequilibrium suggests a remote event (mutation, recombination or immigration) as origin for IH and A3, B35 association.

Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia

“…We also found that the HLA-A*03-B*35 haplotype associated with the H63D mutation is increased in the studied population. Interestingly, the HLA-A*03-B*35 has been linked to hemochromatosis in north-eastern regions of Italy ( Panajotopoulos et al , 1989 ; De Menis et al , 1990 ), but not so in Spain, where there is a significant association between the HLA-A*03-B*62 and HLA-A*03-B*44 haplotypes and the C282Y mutation ( Pacho et al. , 2004 ).…”

Dementia associated with haemochromatosis: a report of two cases

“…Haemochromatosis is particularly associated with HLA-A3, B7, B14 (Milman et al, 1994). The HLA association vanes geographically (De Menis et al, 1990;Milman et al, 1992), such that haemochromatosis in central Sweden, England and Ireland is A3, B 14 dominated, while in Australia, Central Europe, USA and Canada it is associated with HLA-A3, B7. Both of our patients showed the Australian HLA-A3, B7 association.…”