IS THERE A LINK BETWEEN AFRICAN IRON OVERLOAD AND THE DESCRIBED MUTATIONS OF THE HEREDITARY HEMOCHROMATOSIS GENE

Citation
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
Citations number
11
Categorie Soggetti
Hematology
ISSN journal
00071048
Volume
102
Issue
5
Year of publication
1998
Pages
1176 - 1178
Database
ISI
SICI code
0007-1048(1998)102:5<1176:ITALBA>2.0.ZU;2-F
Abstract
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.