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印度中部一个部落群体(拜加人)中的遗传性贫血和缺铁情况

Hereditary anaemias and iron deficiency in a tribal population (the Baiga) of central India.

作者信息

Reddy P H, Petrou M, Reddy P A, Tiwary R S, Modell B

机构信息

University College London Medical School, Department of Obstetics & Gynaecology, U.K.

出版信息

Eur J Haematol. 1995 Aug;55(2):103-9. doi: 10.1111/j.1600-0609.1995.tb01818.x.

Abstract

We have studied the prevalence and molecular nature of hereditary anaemias (abnormal haemoglobins, beta-thalassaemia, alpha-thalassaemia, and Glucose 6 phosphate dehydrogenase (G6PD) deficiency) in a primitive central Indian tribe, the Baiga. 43% of the population appear to be iron-deficient. Hereditary anaemia gene frequencies are, sickle cell 0.0824, G6PD deficiency (in males) 0.0457, beta-thalassaemia 0.0057, and deletional alpha-plus thalassaemia 0.65. Both -alpha 3.7 and -alpha 4.2 deletions were observed and non-deletional alpha-thalassaemia was suspected. The overall gene frequency of Xmn I+polymorphism (C-->T - 158 cap site; upstream of G gamma region) is 0.35. This polymorphism is preferentially linked to beta s genes. It appears that sickle cell disease covers a wide range of severity in the Baiga tribe based on higher mortality in the offspring of AS x AS parents (2.5/couple) compared to AA x AS (0.75/couple) and AA x AA (0.76/couple) parents. This is compatible with the high frequency of genetic modifying factors, i.e., the Xmn I polymorphism and alpha-thalassaemia. The results also indicate that "normal" red cell values must be defined for each population where thalassaemias, G6PD deficiency and iron deficiency are common.

摘要

我们研究了印度中部一个原始部落拜加人中遗传性贫血(异常血红蛋白、β地中海贫血、α地中海贫血和葡萄糖6磷酸脱氢酶(G6PD)缺乏症)的患病率和分子特性。43%的人口似乎缺铁。遗传性贫血基因频率分别为:镰状细胞0.0824、G6PD缺乏症(男性)0.0457、β地中海贫血0.0057以及缺失型α+地中海贫血0.65。观察到了-α3.7和-α4.2缺失,并怀疑存在非缺失型α地中海贫血。Xmn I+多态性(C→T - 158帽位点;Gγ区域上游)的总体基因频率为0.35。这种多态性优先与βs基因连锁。基于AS×AS父母后代(2.5/对)的死亡率高于AA×AS(0.75/对)和AA×AA(0.76/对)父母的后代,在拜加部落中镰状细胞病似乎涵盖了广泛的严重程度范围。这与遗传修饰因子即Xmn I多态性和α地中海贫血的高频率相一致。结果还表明,对于地中海贫血、G6PD缺乏症和缺铁常见的每个群体,必须定义“正常”红细胞值。

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