El-Haj Nura, Hoppe Carolyn C
Department of Hematology-Oncology, UCSF Benioff Children's Hospital Oakland, Oakland, CA 94609, USA.
Int J Neonatal Screen. 2018 Nov 26;4(4):36. doi: 10.3390/ijns4040036. eCollection 2018 Dec.
Sickle cell disease (SCD) encompasses a group of inherited red cell disorders characterized by an abnormal hemoglobin, Hb S. The most common forms of SCD in the United States and Canada are identified through universal newborn screening (NBS) programs. Now carried out in all fifty U.S. states and 8 Canadian provinces, NBS for SCD represents one of the major public health advances in North America. The current status of NBS programs for hemoglobinopathies and the screening techniques employed in many regions worldwide reflect in large part the U.S. and Canadian experiences. Although the structure, screening algorithms and laboratory procedures, as well as reporting and follow up, vary between NBS programs, the overall workflow is similar. The current review summarized the historical background, current approaches, and methods used to screen newborns for SCD in the United States and Canada.
镰状细胞病(SCD)是一组遗传性红细胞疾病,其特征是血红蛋白Hb S异常。在美国和加拿大,最常见的SCD形式是通过新生儿普遍筛查(NBS)项目确定的。目前在美国所有50个州和加拿大8个省开展的SCD新生儿筛查是北美主要的公共卫生进展之一。全球许多地区血红蛋白病NBS项目的现状以及所采用的筛查技术在很大程度上反映了美国和加拿大的经验。尽管不同的NBS项目在结构、筛查算法、实验室程序以及报告和随访方面存在差异,但总体工作流程是相似的。本综述总结了美国和加拿大新生儿SCD筛查的历史背景、当前方法和所用手段。