Therrell Bradford L, Lloyd-Puryear Michele A, Eckman James R, Mann Marie Y
Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229; National Newborn Screening and Global Resource Center (NNSGRC), 39 07 Galacia Dr, Austin, TX 78759.
American College of Medical Genetics and Genomics, Bethesda, MD 20814.
Semin Perinatol. 2015 Apr;39(3):238-51. doi: 10.1053/j.semperi.2015.03.008.
Sickle cell disease is a group of disorders, the majority of which are detected through state newborn screening programs. There is limited knowledge of disease prevalence in the U.S.
We report 20 years of case finding and laboratory data for sickle cell disease and trait to assist in: planning for health services delivery; providing data for researchers; aiding in tracking health outcome trends; and assessing sickle gene prevalence in the newborn population. During the 20-year period, there were 39,422 confirmed cases of sickle cell disease among 76,527,627 newborn births screened (1:1941) and 1,107,875 laboratory reports of probable sickle trait among 73,951,175 newborn births screened (1:67). The highest sickle cell disease incidence during the 20 years was in the District of Columbia (1:437) followed by Mississippi (1:683) and South Carolina (1:771). For sickle cell trait, the highest incidences were in the District of Columbia (1:22), Mississippi (1:26), and South Carolina (1:31).
镰状细胞病是一组疾病，其中大多数是通过州新生儿筛查项目检测出来的。在美国，对该病的患病率了解有限。
我们报告了20年镰状细胞病及其特征的病例发现和实验室数据，以协助进行以下工作：规划医疗服务提供；为研究人员提供数据；帮助追踪健康结果趋势；以及评估新生儿群体中镰状基因的患病率。在这20年期间，在76,527,627例接受筛查的新生儿中，有39,422例确诊为镰状细胞病（1:1941），在73,951,175例接受筛查的新生儿中，有1,107,875份实验室报告显示可能存在镰状特征（1:67）。20年期间镰状细胞病发病率最高的是哥伦比亚特区（1:437），其次是密西西比州（1:683）和南卡罗来纳州（1:771）。对于镰状特征，发病率最高的是哥伦比亚特区（1:22）、密西西比州（1:26）和南卡罗来纳州（1:31）。
