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卢旺达新生儿的红细胞疾病:镰状细胞病和葡萄糖-6-磷酸脱氢酶缺乏症的筛查

Red blood cell disorders in Rwandese neonates: screening for sickle cell disease and glucose-6-phosphate dehydrogenase deficiency.

作者信息

Munyanganizi Rosine, Cotton Frédéric, Vertongen Fanchon, Gulbis Béatrice

机构信息

Laboratory of Butare, National University of Rwanda, Rwanda, Africa.

出版信息

J Med Screen. 2006;13(3):129-31. doi: 10.1258/096914106778440626.

Abstract

OBJECTIVES

To determine the prevalence of haemoglobin (Hb) variants and glucose-6-phosphate dehydrogenase (G6PD) deficiency in Rwanda.

METHODS

During a two-month period in 2005, 987 cord blood samples were obtained in two hospitals in Kigali and Butare, Rwanda. Screening for sickle cell disorders, other Hb disorders, G6PD deficiency and other rare erythroenzymopathy deficiencies was done using isoelectric focusing techniques and quantitative kinetic assays, respectively.

RESULTS

The prevalence of Hb S trait was 2.7% and that of G6PD deficiency was 3.8%. No neonate suffered from a sickle cell disease (homozygous for Hb S or compound heterozygous for Hb S), from another clinically significant haemoglobinopathy, or from pyruvate kinase or glucose phosphate isomerase deficiency.

CONCLUSIONS

Sickle cell disorders should be considered a public health problem in Kigali and Butare. A systematic neonatal screening programme for those disorders, and to diagnose G6PD deficiency, seems reasonable, but local health priorities must be considered. Adapted management of hereditary sickle cell and G6PD disorders should be available.

摘要

目的

确定卢旺达血红蛋白(Hb)变异体和葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的患病率。

方法

2005年的两个月期间,在卢旺达基加利和布塔雷的两家医院采集了987份脐带血样本。分别采用等电聚焦技术和定量动力学分析法对镰状细胞疾病、其他Hb疾病、G6PD缺乏症和其他罕见的红细胞酶病缺乏症进行筛查。

结果

Hb S性状的患病率为2.7%,G6PD缺乏症的患病率为3.8%。没有新生儿患有镰状细胞病(Hb S纯合子或Hb S复合杂合子)、其他具有临床意义的血红蛋白病、丙酮酸激酶或葡萄糖磷酸异构酶缺乏症。

结论

在基加利和布塔雷,镰状细胞疾病应被视为一个公共卫生问题。针对这些疾病以及诊断G6PD缺乏症开展系统的新生儿筛查项目似乎是合理的,但必须考虑当地的卫生优先事项。应提供针对遗传性镰状细胞和G6PD疾病的适当管理。

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