L. Mcnamara et al., IS THERE A LINK BETWEEN AFRICAN IRON OVERLOAD AND THE DESCRIBED MUTATIONS OF THE HEREDITARY HEMOCHROMATOSIS GENE, British Journal of Haematology, 102(5), 1998, pp. 1176-1178
Over 80% of Caucasian patients with hereditary haemochromatosis are ho
mozygotes for a C282Y mutation in the HFE gene on chromosome 6. Recent
evidence suggests that a genetic factor may also be involved in the p
athogenesis of African iron overload, although the locus has not been
described. PCR analysis of DNA from 25 southern Africans, identified b
y segregation analysis as having a high probability of carrying the pu
tative African iron-loading gene, failed to identify any subjects with
the C282Y mutation. The possible genetic defect in African iron overl
oad appears to be different from that described in most cases of hered
itary haemochromatosis in Caucasians.