Operation International Kids, Southampton, New York.
Children's Blood and Cancer Institute, Joseph M. Sanzari Children's Hospital, Hackensack, New Jersey.
Am J Hematol. 2019 Jan;94(1):39-45. doi: 10.1002/ajh.25305. Epub 2018 Oct 31.
Sickle cell disease (SCD) is a common, life-threatening genetic disorder that is best managed when diagnosed early by newborn screening. However, SCD 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 5 years. A rapid and affordable point-of-care test for SCD is needed. The diagnostic accuracy of HemoTypeSC, a point-of-care immunoassay, for SCD was evaluated in individuals who had SCD, 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 SCD to provide timely diagnosis and support newborn screening programs.
镰状细胞病（SCD）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，能够得到最佳治疗。然而，SCD 在世界资源匮乏地区最为常见，这些地区很少进行新生儿筛查，且即时诊断具有挑战性。在许多这样的地区，大多数受影响的儿童在 5 岁之前未经诊断就死亡。因此，需要一种快速且经济实惠的即时护理点检测方法。我们评估了即时免疫测定法 HemoTypeSC 用于诊断镰状细胞病的诊断准确性，受检者包括患有镰状细胞病、血红蛋白 C 病、相关携带者（特征）状态或正常血红蛋白表型的个体。儿童和成人分别来自资源匮乏、中等和丰富环境地区（加纳[383 人]、马提尼克岛[46 人]和美国[158 人]）。在每个研究地点，都采集了配对的血液样本用于 HemoTypeSC 和参考诊断检测。在采集血样的现场进行 HemoTypeSC 检测，而在每个地点的实验室进行参考检测。在所有研究地点的 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%。该检测方法对镰状细胞贫血具有 100%的敏感性和特异性。检测正常和特征状态的敏感性和特异性均>99%。HemoTypeSC 是一种经济实惠（每次检测费用<2 美元）、准确且快速的即时护理点检测方法，可在 SCD 高发的资源匮乏地区使用，以提供及时的诊断和支持新生儿筛查计划。
