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孕期镰状细胞病的常规筛查:刚果的流行病学和血红蛋白概况

Routine Screening for Sickle Cell Disease during Pregnancy: Epidemiological and Haemoglobin Profile in Congo.

作者信息

Dokekias Alexis Elira, Louokdom Josué Simo, Gokaba Letso Thibaut Ocko, Gokaba Firmine Olivia Galiba Atipo Tsiba, Bango Jayne Chelsea, Ocini Lydie Ngolet, Itoua Clatere, Taylor James

机构信息

Sickle Cell Disease Center du Congo (CNRD).

Department of pharmacy Université des Montagnes.

出版信息

J Neonatal Biol. 2022;11(3). Epub 2022 Mar 14.

Abstract

Sickle-cell disease, a genetic condition with a high prevalence in sub-Saharan Africa, is transmitted in an autosomal recessive mode. Its screening during pregnancy makes it possible to identify carriers of the S gene which constitute a risk for the unborn child. In order to promote the use of immuno-chromatographic tests, we have set ourselves the task of establishing the epidemiological profile and determining the Emmel test performance. Analytical cross-sectional study of three months duration carried out in the 12 departments of Congo in pregnant women, from 12 weeks of amenorrhea, Admitted for Antenatal Consultation (ANC). The studied variables were epidemiological, Emmel test and immuno-chromatographic profile of haemoglobin. 782 pregnant women screened, of which 27.88% were AS sickle cell trait and 1.79% homozygous SS. The median age of sickle cell patients was 29 years vs. 25 years (p=0.10). High education level, married status, history of transfusion and sickle cell disease, and high ANC number were more common in pregnant sickle cell patients (p<0.05).The frequency of sickle cell trait ranged from 16.67 to 31.17% and homozygous forms from 0 to 66.67% depending on the department. The sensitivity and specificity of the Emmel test were 46% and 99% with PPV and NPV of 95% and 81% respectively. Sickle cell disease carriage, which is high in both forms, is more often of interest to young, educated, married pregnant women and follow-up by health personnel other than the doctor in rural areas.

摘要

镰状细胞病是一种在撒哈拉以南非洲地区高发的遗传性疾病,以常染色体隐性模式传播。孕期对其进行筛查能够识别出携带S基因的个体,这些个体对未出生的孩子构成风险。为了推广免疫层析检测的使用,我们给自己设定了一项任务,即确定流行病学概况并评估埃姆尔试验的性能。在刚果的12个省份,对怀孕12周及以上前来进行产前咨询(ANC)的孕妇开展了为期三个月的分析性横断面研究。研究变量包括流行病学、埃姆尔试验以及血红蛋白的免疫层析特征。共筛查了782名孕妇,其中27.88%为AS镰状细胞性状携带者,1.79%为纯合SS型。镰状细胞病患者的中位年龄为29岁,而对照组为25岁(p = 0.10)。高学历、已婚状态、输血史和镰状细胞病病史以及高ANC次数在镰状细胞病孕妇中更为常见(p < 0.05)。根据省份不同,镰状细胞性状的频率在16.67%至31.17%之间,纯合形式的频率在0至66.67%之间。埃姆尔试验的敏感性和特异性分别为46%和99%,阳性预测值和阴性预测值分别为95%和81%。镰状细胞病的携带率在两种形式中都很高,在年轻、受过教育、已婚的孕妇中更为常见,并且在农村地区除医生外的其他卫生人员也需要进行随访。

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