@article{748c6751ecb84eec9c27d8001f4bdf1d,
title = "History and Current Status of Newborn Screening for Hemoglobinopathies",
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.",
keywords = "hemoglobinopathies, history, newborn screening, sickle cell disease",
author = "Benson, {Jane M.} and Therrell, {Bradford L.}",
note = "Funding Information: In 1978, the National Genetic Disease Act was passed and provided additional funds for SCD. The NHLBI, responsible for implementing the Act, transferred funds to HRSA to develop community-based SCD education, screening, and counseling services. The NIH funded SCD research projects and established comprehensive research centers. The result was 23 comprehensive care centers (reduced to 10 study centers by 1986) and screening and education centers in 40 states and the District of Columbia by 1981. Despite the successes of the various federal efforts in comprehensive care and education, there was not widespread acceptance of NBS as an approach to early detection and treatment of SCD. 86 Funding Information: Supported in part by HRSA grant U32MC00148 . Funding Information: The National Sickle Cell Disease Program was established in the then Department of Health, Education, and Welfare under the NHLBI in 1972. The Department of Health, Education, and Welfare funded 41 sickle cell centers and clinics, over 250 general screening programs, 69 research grants and contracts with numerous locally supported screening, education, and counseling clinics. 49 Also, in 1972, the Hemoglobinopathy Reference Laboratory was created at the CDC (with funding from the NIH) to serve as a national reference laboratory for the 34 state health departments testing for SCD and for the funded sickle cell centers and clinics. Additional foci included standardizing hemoglobinopathy testing protocols and improving laboratory testing quality through external proficiency testing and continuing education. CDC reference services soon expanded to include all hemoglobinopathies, including thalassemias and unstable hemoglobins. After NIH funding ended in 1990, CDC continued to support this program until 1993. Copyright: Copyright 2010 Elsevier B.V., All rights reserved.",
year = "2010",
month = apr,
doi = "10.1053/j.semperi.2009.12.006",
language = "English (US)",
volume = "34",
pages = "134--144",
journal = "Seminars in Perinatology",
issn = "0146-0005",
publisher = "W.B. Saunders Ltd",
number = "2",
}