History and Current Status of Newborn Screening for Hemoglobinopathies

Jane M. Benson, Bradford L. Therrell

Research output: Contribution to journalReview article

69 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)134-144
Number of pages11
JournalSeminars in Perinatology
Volume34
Issue number2
DOIs
StatePublished - Apr 1 2010

Keywords

  • hemoglobinopathies
  • history
  • newborn screening
  • sickle cell disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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