History and Current Status of Newborn Screening for Hemoglobinopathies

• Published in: Seminars in perinatology 2010-04, Vol.34 (2), p.134-144
• Main Authors: Benson, Jane M., BA, Therrell, Bradford L., MS, PhD
• Format: Article
• Language: English
• Subjects: Anemia, Sickle Cell - diagnosis; Anemia, Sickle Cell - history; hemoglobinopathies; history; History, 20th Century; History, 21st Century; Humans; Infant, Newborn; Neonatal and Perinatal Medicine; Neonatal Screening - history; Neonatal Screening - legislation & jurisprudence; Neonatal Screening - trends; newborn screening; Prenatal Diagnosis - history; Quality Assurance, Health Care; sickle cell disease; United States
• ISSN: 0146-0005; 1558-075X
• 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.