巴基斯坦大都区和海得拉巴地区血亲和ABO血型与β-地中海贫血的关系

Zulfiqar Laghari, T. R. Charan, N. M. Baig, M. Qambarani, J. Warsi
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摘要

近亲婚姻是巴基斯坦根深蒂固的社会趋势,导致遗传性疾病的高发病率。地中海贫血是一种遗传性疾病,其特征是血红蛋白合成异常导致贫血。β-地中海贫血是巴基斯坦最常见的遗传性疾病,特别是在信德省。β-地中海贫血患者需要反复输血,这可能导致输血依赖性β-地中海贫血患者死亡率高的并发症。先前有几项研究报道了β-地中海贫血在巴基斯坦的高患病率,然而,β-地中海贫血在携带β-地中海贫血父母所生的兄弟姐妹中的患病率以及ABO血型与β-地中海贫血的关系尚未得到广泛研究。本研究的目的是了解β-地中海贫血携带者父母的兄弟姐妹中β-地中海贫血的患病率。本研究还旨在找出β-地中海贫血与ABO血型的关系。这是2016年8月至2017年7月在大都区和海得拉巴区地中海贫血中心进行的一项横断面研究。本研究选取了来自50个家庭的168名儿童进行研究。结果表明,β-地中海贫血携带者的新生儿中几乎有一半(44.64%)是β-地中海贫血患者。B血型在男性和女性β-地中海贫血患者中均较高。男性儿童β-地中海贫血患病率高于女性儿童。ABO血型分布为B > O > A > AB, RH因子为RH + ve > RH -ve。最后,本研究表明β-地中海贫血在β-地中海贫血携带者父母所生的兄弟姐妹中患病率较高。男性儿童β-地中海贫血发生率较高,B血型高于其他血型。
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Association of Consanguinity and ABO Blood Groups with β-thalassemia major in District Dadu and Hyderabad, Pakistan
Consanguineous marriages are the deeply rooted social trend in Pakistan, which lead to the high prevalence of inherited diseases. Thalassemia is an inherited disorder characterized by the abnormal synthesis of hemoglobin leading to anemia. β-thalassemia is the most common inherited disorder in Pakistan particularly in Sindh. The patients of β-thalassemia need repeated transfusion, which might cause complications causing the high rate of mortality in blood transfusion dependent β-thalassemia patients. Several studies have previously reported the high prevalence of β-thalassemia in Pakistan, however, the prevalence of β-thalassemia in the siblings borne from β-thalassemia carrier parents and association of ABO blood group with β-thalassemia have not been extensively studied. The purpose of this study was to find out the prevalence of β-thalassemia in the siblings of β-thalassemia carriers parents. This study was also set to find out the association of β-thalassemia with ABO blood groups. This was a cross sectional study carried out from August 2016 to July 2017 in the Thalassemia centers of district Dadu and district Hyderabad. In this study, 168 children from 50 families were selected for the study. The results indicate that almost half of the births 44.64% from β-thalassemia carriers are the β-thalassemia patients. B blood group was found to be higher in both in male and female β-thalassemia patients. Male had higher prevalence of β-thalassemia than female children. The pattern of ABO blood group distribution was B > O > A > AB, and for the RH factor it was RH + ve > Rh –ve. Conclusively, this study indicates the higher prevalence of β-thalassemia in siblings borne from β-thalassemia carrier’s parents. β-thalassemia was higher in male children and B blood group was higher than other blood groups.
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