Genetics: Newborn screening for sickle cell anemia

Wendy S. Meschino; Clare A. Gibbons; Judith Allanson; Sean M. Blaine; Carol Cremin; Heather Dorman; Christina Honeywell; Joanne Permaul; Brenda J. Wilson; June C. Carroll

Early identification of sickle cell anemia (SCA) with newborn screening enables antibiotic prophylaxis for Streptococcus pneumoniae, which is one of the early life-threatening complications of untreated disease. Identifying newborns with SCA also facilitates the education of parents and caregivers about early treatment of crises and prevention of complications. Newborn screening might also detect other hemoglobin (Hb) variants in children, including HbC, HbD, and HbE; however, newborn screening does not test reliably for other hemoglobinopathies, such as β-thalassemia or HbH disease. Hemoglobinopathy screening should therefore still be offered to those parents from high-risk ethnic backgrounds, ideally before or early in pregnancy.

Bottom line

In some provinces, newborn screening for SCA is available, facilitating early interventions to prevent complications.

The complete Gene Messenger—Newborn Screening for Sickle Cell Anemia by the GenetiKit research team is available on CFPlus.* Past Gene Messenger articles can be accessed on-line at www.cfp.ca. On the home page, click on Collections in the left-hand menu, then click on Genetics.

Acknowledgment

Funding was provided by the Canadian Institutes of Health Research.

Footnotes

Competing interests

None declared
The GenetiKit research team, a group of family physicians, genetic counselors and geneticists, designed the Gene Messenger series to provide practical information to help family physicians and their patients make informed choices about rapidly emerging genetic discoveries. The series is a collection of up-to-date, definitive, short reviews on genetics topics that have made headlines, and offers recommendations regarding referral for genetic services or testing.
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The Gene Messenger on newborn screening for sickle cell anemia is available at www.cfp.ca. Go to the full text of this article on-line, then click on CFPlus in the menu at the top right-hand side of the page.