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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients
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Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients

机译：血色素沉着病C282Y基因突变是埃及β地中海贫血患者铁超负荷的潜在易感性因素

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Background Hereditary hemochromatosis is the most frequent cause of primary iron overload that is associated with HFE gene’s mutation especially the C282Y mutation. The interaction between hemoglobin chain synthesis’ disorders and the C282Y mutation may worsen the clinical picture of beta-thalassemia major (β-TM). Aim To establish the prevalence of the C282Y mutations in Egyptian β-TM patients and to address its adverse effects. Methods Two-hundred and five β-TM patients were recruited and divided into two groups based on their serum ferritin (SF); group I (N=125) (SF≤2500ng/dl) and group II (N=80) (SF>2500ng/dl). All patients were subjected to clinical and laboratory assessment with special emphasis on iron overload complications. Genotyping was assessed by polymerase chain reaction for detection of C282Y mutation in HFE gene. Results The C282Y mutation was not detected in the studied β-TM neither in homozygous nor heterozygous state. There were several iron overload complications including cardiac complication (9.1%), liver disease (36.6%), delayed puberty (56.6%), primary (35.71%) and secondary amenorrhea (21.42%), short stature (27.3%), diabetes (3.4%), neutropenia (9.7%), arthralgia (10.2%), gastrointestinal (21.1%), depression (2.9%) and others (12.05%). Group I showed a statistically significant lower rate of taking iron-rich diet when compared to group II. Group II showed significant longer mean duration of disease, higher total transfusion rate per life, lower mean HbF% level, higher mean HbA% level, and higher rate of elevated liver enzymes than patients with SF≤2500ng/dl. Conclusion The C282Y mutation was not detected in the studied cohort of Egyptian β-TM patients neither in homozygous nor heterozygous state in spite of manifestations of iron overload complications.
机译：背景遗传性血色素沉着病是导致原发性铁超负荷的最常见原因，这与HFE基因的突变（尤其是C282Y突变）有关。血红蛋白链合成障碍与C282Y突变之间的相互作用可能会使严重的β地中海贫血（β-TM）的临床状况恶化。目的确定埃及β-TM患者中C282Y突变的发生率并解决其不良反应。方法招募250例β-TM患者，根据血清铁蛋白（SF）分为两组。第一组（N = 125）（SF≤2500ng/ dl）和第二组（N = 80）（SF> 2500ng / dl）。所有患者均接受了临床和实验室评估，特别强调铁超负荷并发症。通过聚合酶链反应评估基因分型，以检测HFE基因中的C282Y突变。结果研究的β-TM在纯合或杂合状态均未检测到C282Y突变。铁超负荷并发症包括心脏并发症（9.1％），肝病（36.6％），青春期延迟（56.6％），原发性（35.71％）和继发性闭经（21.42％），身材矮小（27.3％），糖尿病（ 3.4％），中性粒细胞减少症（9.7％），关节痛（10.2％），胃肠道（21.1％），抑郁症（2.9％）及其他（12.05％）。与第二组相比，第一组的食用富铁饮食的比例明显降低。与SF≤2500ng / dl的患者相比，第二组的平均病程更长，每生总输血率更高，平均HbF％水平更低，平均HbA％水平更高，肝酶升高率更高。结论尽管存在铁超负荷并发症，在研究的埃及β-TM患者队列中，无论是纯合子还是杂合子，均未检测到C282Y突变。

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