[突尼斯重型β地中海贫血与铁过载中的HFE基因突变]
[HFE gene mutations in Tunisian major beta-Thalassemia and iron overload].
作者信息
Mellouli F, El Borgi W, Kaabi H, Ben Hassen E, Sassi R, Hmida H, Cherif G, Maamar M, Zouari B, Boukef K, Bejaoui M, Hmida S
机构信息
Centre national de greffe de moelle osseuse de Tunis, Tunisie.
出版信息
Transfus Clin Biol. 2006 Dec;13(6):353-7. doi: 10.1016/j.tracli.2006.12.002. Epub 2007 Feb 15.
OBJECTIVES
In this study we have determined the allele frequency of HFE mutations H63D and C282Y in a group of Tunisian beta-thalassemia major patients. These two mutations are implicated in hereditary hemochromatosis among Caucasians. In this study we wanted to correlate these mutations with the iron status in major beta-thalassemia patients.
DESIGN AND METHODS
Fifty Tunisian major beta-thalassemia were screening for the C282Y and H63D by digestion of polymerase chain reaction products (RFLP). Serum ferritin level was measured by immunoenzymatic microparticular essay.
RESULTS
The allele frequency of H63D mutation was 17%. C282Y mutation was not present in our studied patients. No statistically significant difference of serum ferritin level was found between major beta-thalassemia with and without HFE mutations.
CONCLUSION
Our results suggest that H63D mutation is so frequent in Tunisian major beta-thalassemia patients than in the general population and that the coinheritance of H63D mutation does not influence the severity of iron overload in these patients.
目的
在本研究中，我们测定了一组突尼斯重型β地中海贫血患者中HFE突变H63D和C282Y的等位基因频率。这两种突变与白种人中的遗传性血色素沉着症有关。在本研究中，我们希望将这些突变与重型β地中海贫血患者的铁状态相关联。
设计与方法
通过聚合酶链反应产物消化（RFLP）对50例突尼斯重型β地中海贫血患者进行C282Y和H63D筛查。采用免疫酶微粒法测定血清铁蛋白水平。
结果
H63D突变的等位基因频率为17%。我们研究的患者中不存在C282Y突变。在有和没有HFE突变的重型β地中海贫血患者之间，未发现血清铁蛋白水平有统计学显著差异。
结论
我们的结果表明，H63D突变在突尼斯重型β地中海贫血患者中比在普通人群中更为常见，并且H63D突变的共同遗传不影响这些患者铁过载的严重程度。
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