Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
Semin Perinatol. 2010 Apr;34(2):134-44. doi: 10.1053/j.semperi.2009.12.006.
The impact of hemoglobinopathies on healthcare in the United States, particularly sickle cell disease (SCD), has been significant. Enactment of the Sickle Cell Anemia Control Act in 1972 significantly increased the federal interest in the SCDs and other hemoglobinopathies. Only since May 1, 2006, have all states required and provided universal newborn screening for SCD despite a national recommendation to this effect in 1987. In this article, we review the history of screening for SCD and other hemoglobinopathies, along with federal and state activities that have contributed to improved health outcomes for patients with SCD, as well as current newborn screening practices. We also chronicle the federal activities that have helped to shape and to refine laboratory screening and diagnostic proficiency. Finally, we review molecular testing strategies that have evolved and outline their possible future impacts on disease detection and outcome improvement.
血红蛋白病对美国医疗保健的影响，尤其是镰状细胞病（SCD），一直很显著。1972 年《镰状细胞贫血病控制法案》的颁布，极大地增加了联邦政府对 SCD 及其他血红蛋白病的关注。尽管早在 1987 年就有了这方面的全国建议，但直到 2006 年 5 月 1 日，所有州才要求并提供 SCD 的普遍新生儿筛查，尽管如此，目前的新生儿筛查实践仍存在一些问题。在本文中，我们回顾了 SCD 及其他血红蛋白病筛查的历史，以及为改善 SCD 患者健康结果而做出贡献的联邦和州的活动，同时还记录了有助于塑造和完善实验室筛查和诊断能力的联邦活动。最后，我们回顾了分子检测策略的演变，并概述了它们对疾病检测和改善结果的可能未来影响。
