Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2018 Nov 26;4(4):36.
doi: 10.3390/ijns4040036. eCollection 2018 Dec.

Newborn Screening for SCD in the USA and Canada

Nura El-Haj  1 , Carolyn C Hoppe  1
Affiliations
Review

Newborn Screening for SCD in the USA and Canada

Nura El-Haj et al. Int J Neonatal Screen. .

Abstract

Sickle cell disease (SCD) encompasses a group of inherited red cell disorders characterized by an abnormal hemoglobin, Hb S. The most common forms of SCD in the United States and Canada are identified through universal newborn screening (NBS) programs. Now carried out in all fifty U.S. states and 8 Canadian provinces, NBS for SCD represents one of the major public health advances in North America. The current status of NBS programs for hemoglobinopathies and the screening techniques employed in many regions worldwide reflect in large part the U.S. and Canadian experiences. Although the structure, screening algorithms and laboratory procedures, as well as reporting and follow up, vary between NBS programs, the overall workflow is similar. The current review summarized the historical background, current approaches, and methods used to screen newborns for SCD in the United States and Canada.

Keywords: hemoglobinopathies; methods; newborn screening; review.

PubMed Disclaimer

Conflict of interest statement

Conflicts of InterestThe authors declare no conflict of interest.

Figures

Figure 1
Figure 1
SCD includes Hb SS, Hb S/beta thalassemia and Hb SC genotypes. Abbreviations: ACMG, American College of Medical Genetics; CSSCD, Cooperative Study of Sickle Cell Disease; HHS, Health and Human Services; HRSA, Health Resources and Services Administration; NBS, newborn screening; NHLBI, National Heart, Lung and Blood Institute; NIH, National Institutes of Health; RUSP, Recommended Uniform Screening Panel.
See this image and copyright information in PMC

References

    1. Brittenham G.M., Schechter A.N., Noguchi C.T. Hemoglobin S polymerization: Primary determinant of the hemolytic and clinical severity of the sickling syndromes. Blood. 1985;65:183–189. - PubMed
    1. Frenette P.S. Sickle cell vaso-occlusion: Multistep and multicellular paradigm. Curr. Opin. Hematol. 2002;9:101–106. doi: 10.1097/00062752-200203000-00003. - DOI - PubMed
    1. Gill F.M., Sleeper L.A., Weiner S.J., Brown A.K., Bellevue R., Grover R., Pegelow C.H., Vichinsky E. Clinical events in the first decade in a cohort of infants with sickle cell disease. Cooperative Study of Sickle Cell Disease. Blood. 1995;86:776–783. - PubMed
    1. Gaston M.H., Verter J.I., Woods G., Pegelow C., Kelleher J., Presbury G., Zarkowsky H., Vichinsky E., Iyer R., Lobel J.S., et al. Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N. Engl. J. Med. 1986;314:1593–1599. doi: 10.1056/NEJM198606193142501. - DOI - PubMed
    1. Vichinsky E., Hurst D., Earles A., Kleman K., Lubin B. Newborn screening for sickle cell disease: Effect on mortality. Pediatrics. 1988;81:749–755. - PubMed