Prevalence of classic erythrocyte polymorphisms among 749 children in southern highland Rwanda
Prevalence of classic erythrocyte polymorphisms among 749 children in southern highland Rwanda
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DOI：
10.1016/j.trstmh.2011.09.002
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发表时间：
2012-01-01
影响因子：
2.2
通讯作者：
Mockenhaupt, Frank P.
中科院分区：
文献类型：
--
作者：
Gahutu, Jean-Bosco;Musemakweri, Andre;Mockenhaupt, Frank P.
经典的红细胞多态性进行了评估，基于PCR的方法在749名儿童在南部高原卢旺达。镰状细胞性状、葡萄糖-6-磷酸脱氢酶（G6 PD）缺乏和α（+）-地中海贫血分别为2.8%、9.6%和15.1%。疟疾学参数与这些性状没有相关性。血红蛋白浓度显着降低α（+）-地中海贫血，但只有纯合子（0.8%）是一种罕见的原因，贫血在这个人口。疟疾保护性多态性的频率反映了研究地区的高海拔（1700-1800米）。在卢旺达，α（+）地中海贫血和G6 PD缺乏症以前被低估，这可能对常见儿童疾病的诊断和治疗具有重要意义。(C)2011年皇家热带医学和卫生学会。由爱思唯尔有限公司出版。保留所有权利。
Classic erythrocyte polymorphisms were assessed by PCR-based methods among 749 children in southern highland Rwanda. Sickle cell trait, glucose-6-phosphate dehyclrogenase (G6PD) deficiency, and alpha(+)-thalassaemia were observed in 2.8%, 9.6%, and 15.1%, respectively. Malariologic parameters did not correlate with these traits. Haemoglobin concentrations were significantly reduced in alpha(+)-thalassaemia but only homozygosity (0.8%) was a rare cause of anaemia in this population. The frequencies of malaria-protective polymorphisms reflect the high altitude (1700-1800 metres) of the study area. alpha(+)-thalassaemia and G6PD deficiency have previously been underestimated in Rwanda which may be of importance in the diagnosis and treatment of common childhood diseases. (C) 2011 Royal Society of Tropical Medicine and Hygiene. Published by Elsevier Ltd. All rights reserved.