M. Worwood et al., THE FREQUENCY OF THE HEMOCHROMATOSIS-ASSOCIATED GENOTYPE D6S265-1-D6S105-8 IN BLOOD-DONORS, British Journal of Haematology, 93(4), 1996, pp. 838-840
Homozygosity for HLA-A3 and the microsatellite markers D6S265 allele 1
and D6S105 allele 8 is associated with a high relative risk for genet
ic haemochromatosis - indeed we and others have suggested that a haplo
type including D6S265-1, HLA-A3 and D6S105-8 is specific for haemochro
matosis. To determine the frequency of this haplotype and examine its
specificity for haemochromatosis we have analysed data from 7820 blood
donors from South Wales. The frequency of homozygosity for D6S265-1,
HLA-A3 and D6S105-8 was 1 in 280. Calculations based on the prevalence
of haemochromatosis suggest that about 50% of chromosomes carrying D6
S265-1:HLA-A3:D6S105-8 also carry the haemachromatosis gene. This info
rmation is of value for assessing the risk that the partner of a patie
nt with haemochromatosis also carries the haemochromatosis gene.