Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test.
Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test.
复制标题
DOI：
10.1002/ajh.25305
复制
发表时间：
2019-01
影响因子：
12.8
通讯作者：
Quinn CT
中科院分区：
文献类型：
--
作者：
Steele C;Sinski A;Asibey J;Hardy-Dessources MD;Elana G;Brennan C;Odame I;Hoppe C;Geisberg M;Serrao E;Quinn CT
镰状细胞病是一种常见的、危及生命的遗传性疾病，通过新生儿筛查早期诊断时可以得到最好的治疗。然而，镰状细胞病在世界资源匮乏地区最为普遍，这些地区的新生儿筛查很少，且护理点诊断具有挑战性。在许多此类地区，大多数受影响的儿童在五岁之前就死于未经诊断的情况。需要一种快速且经济实惠的镰状细胞病即时检测方法。 HemoTypeSC（一种即时免疫分析）对镰状细胞病的诊断准确性在患有镰状细胞病、血红蛋白 C 病、相关携带者（性状）状态或正常血红蛋白表型的个体中进行了评估。儿童和成人参与了低、中和高资源环境[加纳 (n=383)、马提尼克岛 (n=46) 和美国 (n=158)]。获得配对的血液样本用于 HemoTypeSC 和参考诊断测定。 HemoTypeSC 测试在采血地点进行，参考测试在每个地点的实验室进行。在所有研究中心的 587 名参与者中，HemoTypeSC 对所有血红蛋白表型的总体敏感性为 99.5%，特异性为 99.9%。该测试对镰状细胞性贫血具有 100% 的敏感性和特异性。检测正常和性状状态的敏感性和特异性>99%。 HemoTypeSC 是一种廉价（每次测试 <2 美元）、准确且快速的即时护理测试，可用于镰状细胞病高发的资源有限地区，以提供及时诊断并支持新生儿筛查计划。
Sickle cell disease is a common, life-threatening genetic disorder that is best managed when diagnosed early by newborn screening. However, sickle cell disease is most prevalent in low-resource regions of the world where newborn screening is rare and diagnosis at the point-of-care is challenging. In many such regions, the majority of affected children die, undiagnosed, before the age of five years. A rapid and affordable point-of-care test for sickle cell disease is needed. The diagnostic accuracy of HemoTypeSC, a point-of-care immunoassay, for sickle cell disease was evaluated in individuals who had sickle cell disease, hemoglobin C disease, the related carrier (trait) states, or a normal hemoglobin phenotype. Children and adults participated in low-, medium- and high-resource environments [Ghana (n=383), Martinique (n=46), and USA (n=158)]. Paired blood specimens were obtained for HemoTypeSC and a reference diagnostic assay. HemoTypeSC testing was performed at the site of blood collection, and the reference test was performed in a laboratory at each site. In 587 participants, across all study sites, HemoTypeSC had an overall sensitivity of 99.5% and specificity of 99.9% across all hemoglobin phenotypes. The test had 100% sensitivity and specificity for sickle cell anemia. Sensitivity and specificity for detection of normal and trait states were >99%. HemoTypeSC is an inexpensive (<$2 per test), accurate, and rapid point-of-care test that can be used in resource-limited regions with a high prevalence of sickle cell disease to provide timely diagnosis and support newborn screening programs.
登录
查看更多内容
影响因子：
6.1
作者：
Yang, Xiaoxi;Kanter, Julie;Shevkoplyas, Sergey S.
通讯作者：
Shevkoplyas, Sergey S.
影响因子：
158.5
作者：
PLATT, OS;BRAMBILLA, DJ;KLUG, PP
通讯作者：
KLUG, PP
DOI：
10.1016/j.trsl.2016.03.008
发表时间：
2016-07
期刊：
Translational research : the journal of laboratory and clinical medicine
影响因子：
--
作者：
Alapan Y;Kim C;Adhikari A;Gray KE;Gurkan-Cavusoglu E;Little JA;Gurkan UA
通讯作者：
Gurkan UA
影响因子：
20.3
作者：
Weatherall, David J.
通讯作者：
Weatherall, David J.
影响因子：
1.3
作者：
McCavit, Timothy L.
通讯作者：
McCavit, Timothy L.