Awareness about thalassemia in post graduate students

M. Qadir, M. Rizvi
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引用次数: 124

Abstract

Inherited hemoglobinopathies are basically thalassemia syndromes that occur due to decreased or absent formation of normal hemoglobin. Abnormal globin gene in thalassemia describes its type. Patients who have defective alpha globin genes suffer from alpha thalassemia and patients who have defective beta globin genes suffer from beta thalassemia. There are clinical presentations which varied widely in thalassemia patients, the severity range from asymptomatic to severe anemia in which blood transfusions are needed for lifetime and in multiple organ system many complications occur.1 Alpha thalassemia has been prevailed in India, Africa and South East Africa. Beta thalassaemia has been spread in many areas of Middle East, Mediterranean, in Southern China, in South, Central and South East Asia. The carriers of alpha thalassemia are 5% and of beta thalassemia is 1.5% all over the world. Genotypes of alpha and beta thalassaemia are highly prevalent in those regions which are infected with Plasmodium falciparum. This leads to a theory that evolutionary protection mechanism is represented by thalassemia gene mutation. The populations which are at risk to thalassemia are migrating towards non-endemic areas and increasing the rate of thalassemia gene mutations all over the world.2
研究生对地中海贫血的认识
遗传性血红蛋白病基本上是由于正常血红蛋白形成减少或缺失而发生的地中海贫血综合征。地中海贫血的异常珠蛋白基因描述了其类型。具有缺陷的α-珠蛋白基因的患者患有α-地中海贫血,具有缺陷的β-珠蛋白的患者患有β-地中海贫血。地中海贫血患者的临床表现差异很大,严重程度从无症状到终身需要输血的严重贫血,在多器官系统中会出现许多并发症。1阿尔法地中海贫血在印度、非洲和东南非很普遍。β地中海贫血已在中东、地中海、中国南方、南亚、中亚和东南亚的许多地区传播。全世界α地中海贫血携带者占5%,β地中海贫血携带者为1.5%。α和β地中海贫血的基因型在感染恶性疟原虫的地区非常普遍。这导致了一种理论,即地中海贫血基因突变代表了进化保护机制。地中海贫血风险人群正在向非流行地区迁移,并在世界各地增加了地中海贫血基因突变率。2
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