Butare University Teaching Hospital, Faculty of Medicine, National University of Rwanda, P. O. Box 264, Butare, Rwanda.
Trans R Soc Trop Med Hyg. 2012 Jan;106(1):63-5. doi: 10.1016/j.trstmh.2011.09.002. Epub 2011 Oct 20.
Classic erythrocyte polymorphisms were assessed by PCR-based methods among 749 children in southern highland Rwanda. Sickle cell trait, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and α(+)-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 α(+)-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. α(+)-thalassaemia and G6PD deficiency have previously been underestimated in Rwanda which may be of importance in the diagnosis and treatment of common childhood diseases.
在卢旺达南部高地的 749 名儿童中，采用基于 PCR 的方法评估了经典的红细胞多态性。镰状细胞特征、葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症和α（+）-地中海贫血分别观察到 2.8%、9.6%和 15.1%。疟疾学参数与这些特征没有相关性。α（+）-地中海贫血的血红蛋白浓度显著降低，但只有纯合子（0.8%）是该人群贫血的罕见原因。疟疾保护多态性的频率反映了研究区域的高海拔（1700-1800 米）。α（+）-地中海贫血和 G6PD 缺乏症在卢旺达以前被低估，这可能对常见儿童疾病的诊断和治疗很重要。
