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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients
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Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients

机译：HFE基因突变对埃及地中海贫血患者铁超负荷影响的研究

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Background HFE gene mutations have been shown to be responsible for hereditary hemochromatosis. Their effect on iron load in β-thalassemia patients and carriers remains controversial. Objectives We aimed to determine the prevalence of HFE gene mutations (C282Y and H63D) in β-thalassemia patients and carriers and to investigate its effect on their serum ferritin levels. Patients and methods A total of 100 β-thalassemia subjects; 75 patients and 25 carriers were screened for HFE gene mutations by PCR-RFLP. Serum ferritin measured by ELISA was evaluated in relation to HFE mutations. Results Twenty-eight β-thalassemia patients (37.3%) were heterozygotes for H63D mutation (H/D), 8 (10.7%) were D/D and 39 (52%) were negative (H/H). Among carriers, 4 (16%) were D/D and 21 (84%) were H/H homozygotes. C282Y mutant allele was not detected in any of the subjects. Serum ferritin levels were significantly higher in β-thalassemia patients heterozygotes or homozygotes for H63D mutation compared to those without mutation ( p =0.000). Carriers homozygotes for H63D mutation showed significantly higher serum ferritin levels compared to those without mutation ( p <0.001). Conclusion Homozygosity for H63D mutation tends to be associated with higher ferritin levels in beta-thalassemia patients and carriers suggesting its modulating effect on iron load in these cases.
机译：背景HFE基因突变已被证明与遗传性血色素沉着有关。它们对β地中海贫血患者和携带者铁负荷的影响仍存在争议。目的我们旨在确定β地中海贫血患者和携带者中HFE基因突变（C282Y和H63D）的患病率，并研究其对血清铁蛋白水平的影响。患者和方法共有100位β地中海贫血患者;通过PCR-RFLP筛选75例患者和25例携带者的HFE基因突变。通过ELISA测定的血清铁蛋白与HFE突变有关。结果28例β地中海贫血患者（37.3％）为H63D突变（H / D）杂合子，8（10.7％）为D / D，39（52％）阴性（H / H）。在携带者中，D / D为4（16％），H / H纯合子为21（84％）。在任何受试者中均未检测到C282Y突变体等位基因。与没有突变的患者相比，β-地中海贫血患者的H63D突变杂合子或纯合子的血清铁蛋白水平显着更高（p = 0.000）。与未突变的携带者相比，用于H63D突变的携带者纯合子显示出较高的血清铁蛋白水平（p <0.001）。结论β-地中海贫血患者和携带者中H63D突变的纯合性往往与较高的铁蛋白水平有关，表明在这些情况下其对铁负荷的调节作用。

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