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冈比亚部分医疗机构针对镰状细胞病的即时检验新生儿筛查

Point-of-Care Newborn Screening for Sickle Cell Disease at Selected Health Facilities in the Gambia.

作者信息

Adegoke Samuel Ademola, Makalo Lamin, Sallah Adama, Saine Horeja, Joof Sheikh, Conteh Amie, Bah Ramatoulie, Camara Jammeh Adji Fatou, Bass Matthew, Jallow Mamadou, Nnodu Obiageli Eunice

机构信息

Edward Francis Small Teaching Hospital, Banjul, The Gambia.

Department of Paediatrics and Child Health, Obafemi Awolowo University, Ile-Ife, Nigeria.

出版信息

Hemoglobin. 2024 May;48(3):169-174. doi: 10.1080/03630269.2024.2369523. Epub 2024 Jul 9.

Abstract

Sickle cell disease (SCD) contributes significantly to childhood morbidity and mortality in sub-Saharan Africa. Early diagnosis through newborn screening (NBS) and subsequent comprehensive follow-up care will reduce the burden. Up till now, the prevalence of SCD among newborns remains unknown in The Gambia and there is no national NBS programme to address this significant public health issue. We assessed the real-time frequency of SCD in the country and determined differences in the pattern of SCD phenotypes among different ethnic groups. A preliminary prospective feasibility study was done in eight purposively selected hospitals in the seven Health Administrative Regions and Banjul. Consecutive newborn babies delivered or managed in these facilities were screened using HemoTypeSC, a sensitive and specific ELISA-based point-of-care test (POCT). Babies identified as SCD with HemoTypeSC were retested at age ≥6 months using alkaline cellulose acetate hemoglobin electrophoresis (ACAE). Head-to-head comparison between HemoType screening and gold standard HPLC could not be done. 1,168 newborn babies were screened from April 14 to August 12, 2023. Fifteen (1.3%) had homozygous HbS (HbSS), two (0.2%) heterozygous for HbS and HbC (HbSC), 204 (17.5%) had sickle cell trait (HbAS), four (0.3%) heterozygous for HbA and HbC (HbAC), and 943 (80.7%) had normal hemoglobin (HbAA). The 17 with SCD (HbSS and HbSC) comprised of 7 (2.2%) of 324 Fula; 6 (1.4%) of 426 Mandinka; 2 (1.6%) of 125 Jola and 2 (1.3%) of 150 Wolof. Fourteen (82.4%) of the 17 accepted the diagnosis and were enrolled into the SCD program. For these 14, HemoTypeSC had 100% sensitivity with ACAE when repeated at age ≥6 months. In addition to determining the real-time newborn prevalence of SCD and trait in The Gambia for the first time, this pilot study showed that SCD-POCT is feasible in Gambian health facilities.

摘要

镰状细胞病(SCD)在撒哈拉以南非洲地区对儿童发病率和死亡率有重大影响。通过新生儿筛查(NBS)进行早期诊断并随后提供全面的后续护理将减轻负担。截至目前,冈比亚新生儿中SCD的患病率仍然未知,并且没有国家NBS计划来解决这一重大公共卫生问题。我们评估了该国SCD的实时发病率,并确定了不同种族群体中SCD表型模式的差异。在七个卫生行政区和班珠尔的八家有目的地选择的医院中进行了一项初步的前瞻性可行性研究。在这些机构中分娩或接受治疗的连续新生儿使用HemoTypeSC进行筛查,这是一种基于酶联免疫吸附测定(ELISA)的敏感且特异的即时检验(POCT)。使用HemoTypeSC鉴定为SCD的婴儿在年龄≥6个月时使用碱性醋酸纤维素血红蛋白电泳(ACAE)进行重新检测。无法对HemoType筛查与金标准高效液相色谱法(HPLC)进行直接比较。2023年4月14日至8月12日期间对1168名新生儿进行了筛查。15名(1.3%)为纯合子HbS(HbSS),2名(0.2%)为HbS和HbC的杂合子(HbSC),204名(17.5%)有镰状细胞性状(HbAS),4名(0.3%)为HbA和HbC的杂合子(HbAC),943名(80.7%)血红蛋白正常(HbAA)。17名患有SCD(HbSS和HbSC)的婴儿中,324名富拉尼族中有7名(2.2%);426名曼丁卡族中有6名(1.4%);125名乔拉族中有2名(1.6%);150名沃洛夫族中有2名(1.3%)。17名婴儿中有14名(82.4%)接受了诊断并被纳入SCD项目。对于这14名婴儿,当在年龄≥6个月时重复检测时,HemoTypeSC与ACAE相比灵敏度为100%。除了首次确定冈比亚SCD和性状的实时新生儿患病率外,这项试点研究还表明SCD-POCT在冈比亚的卫生机构中是可行的。

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