History and Current Status of Newborn Screening for Hemoglobinopathies
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.
⁎Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA
†Department of Pediatrics, University of Texas Health Science Center at San Antonio, National Newborn Screening and Genetics Resource Center, Austin, TX
Address reprint requests to Bradford L. Therrell Jr, MS, PhD, National Newborn Screening and Genetics Resource Center, 1912 W. Anderson Lane 210, Austin, TX 78757
The findings and conclusions in this report are those of the authors and do not necessarily represent the views of the Centers for Disease Control and Prevention, the Health Resources and Services Administration, the US Department of Health and Human Services, or the University of Texas Health Science Center at San Antonio.
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