McNamara L, MacPhail A P, Gordeuk V R, Hasstedt S J, Rouault T
Department of Medicine, University of the Witwatersrand Medical School, Johannesburg, South Africa.
Br J Haematol. 1998 Sep;102(5):1176-8. doi: 10.1046/j.1365-2141.1998.00917.x.
Over 80%, of Caucasian patients with hereditary haemochromatosis are homozygotes for a C282Y mutation in the HFE gene on chromosome 6. Recent evidence suggests that a genetic factor may also be involved in the pathogenesis of African iron overload, although the locus has not been described. PCR analysis of DNA from 25 southern Africans, identified by segregation analysis as having a high probability of carrying the putative African iron-loading gene, failed to identify any subjects with the C282Y mutation. The possible genetic defect in African iron overload appears to be different from that described in most cases of hereditary haemochromatosis in Caucasians.
超过80%的患有遗传性血色素沉着症的白种人患者是6号染色体上HFE基因C282Y突变的纯合子。最近的证据表明，遗传因素可能也参与了非洲人铁过载的发病机制，尽管该基因座尚未被描述。对25名南非人的DNA进行PCR分析，通过分离分析确定这些人极有可能携带假定的非洲铁负荷基因，但未发现任何携带C282Y突变的个体。非洲人铁过载可能的遗传缺陷似乎与大多数白种人遗传性血色素沉着症病例中所描述的不同。
