Surveillance for sickle cell disease, United Republic of Tanzania.
Surveillance for sickle cell disease, United Republic of Tanzania.
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DOI：
10.2471/blt.20.253583
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发表时间：
2020-12-01
影响因子：
11.1
通讯作者：
Ware RE
中科院分区：
文献类型：
--
作者：
Ambrose EE;Smart LR;Charles M;Hernandez AG;Latham T;Hokororo A;Beyanga M;Howard TA;Kamugisha E;McElhinney KE;Tebuka E;Ware RE
确定坦桑尼亚联合共和国西北部九个地区新生儿镰状细胞病和镰状细胞病的区域和地区流行率，以及镰状细胞病血红蛋白变异和遗传修饰物的流行率。我们重新利用了来自患有人类免疫缺陷病毒（HIV）的母亲所生儿童（0-24个月）的干血斑样本，作为HIV早期婴儿诊断计划的一部分收集，用于镰状细胞诊断。我们进行了等电聚焦，以确定是否有正常的血红蛋白，镰状细胞性状，镰状细胞病或罕见的血红蛋白变异样本。我们将诊断为疾病或变异的样本运送到美利坚合众国的辛辛那提儿童医院进行基于脱氧核糖核酸的分析，以确定α-地中海贫血、葡萄糖-6-磷酸脱氢酶（G6 PD）缺乏症或胎儿血红蛋白遗传修饰因子的患病率。我们在2017年2月至2018年5月期间共分析了17200份标本。我们观察到镰状细胞性状和疾病的患病率分别为20.3%（3492/17200）和1.2%（210/17200）。地区级性状变异率为8.6%（5/58）~ 28.1%（77/274）。在确诊的镰状细胞病患者中，42.7%（61/143）的患者存在1个基因缺失，14.7%（21/143）的患者存在2个基因缺失。我们记录了19.2%（14/73）的男性G6 PD A-缺乏症。我们计算的患病率是以前报告的两倍，并加强了对加强镰状细胞诊断服务的需求。我们的区级数据将为公共卫生政策提供信息，使筛查和疾病修饰的羟基脲治疗能够集中在高患病率地区，直到普及新生儿筛查。
To determine the regional- and district-level newborn prevalence of sickle cell trait and disease, and the prevalence of haemoglobin variants and genetic modifiers of sickle cell disease, in the nine regions of north-western United Republic of Tanzania. We repurposed dried blood spot samples from children (aged 0–24 months) born to mothers living with human immunodeficiency virus (HIV), collected as part of the HIV Early Infant Diagnosis programme, for sickle cell diagnosis. We performed isoelectric focusing to determine whether samples had normal haemoglobin, sickle cell trait, sickle cell disease or a rare haemoglobin variant. We shipped samples diagnosed as disease or variant to Cincinnati Children’s Hospital in the United States of America for deoxyribonucleic-acid-based analyses to determine the prevalence of α-thalassaemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency or fetal haemoglobin genetic modifiers. We analysed a total of 17 200 specimens during February 2017–May 2018. We observed a prevalence of sickle cell trait and disease of 20.3% (3492/17 200) and 1.2% (210/17 200), respectively. District-level trait varied from 8.6% (5/58) to 28.1% (77/274). Among confirmed sickle cell disease specimens, we noted 42.7% (61/143) had 1-gene deletion and 14.7% (21/143) had 2-gene deletion α-thalassaemia trait. We documented G6PD A– deficiency in 19.2% (14/73) of males. Our calculated prevalence is twice as high as previously reported and reinforces the need for enhanced sickle cell diagnostic services. Our district-level data will inform public health policy, allowing screening and disease-modifying hydroxyurea therapy to be focused on high-prevalence areas, until universal newborn screening is available.