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Misdiagnosis as Sickle Cell Anemia by Newborn Screening

Edward M. Rubin, MS; Peter T. Rowley, MD

Am J Dis Child. 1979;133(12):1248-1250.

Abstract
• A black female infant, reported as a result of mandatory newborn screening to have sickle cell anemia, was found at 8 months of age to have instead the entirely benign disorder sickle cell trait/hereditary persistence of fetal hemoglobin trait. The finding of hemoglobin S without Hb A does not suffice for the diagnosis of homozygous Hb S. Screening programs that diagnose sickle cell anemia without first demonstrating sickle hemoglobin in both parents will consistently misdiagnose several more benign hemoglobin states as sickle cell anemia.

(Am J Dis Child 133:1248-1250, 1979)

Author Affiliations
From the Division of Genetics (Drs Rubin and Rowley) and the Departments of Medicine (Dr Rowley), Pediatrics (Drs Rubin and Rowley), and Radiation Biology and Biophysics (Dr Rubin), University of Rochester (NY) School of Medicine.

Footnotes
Reprint requests to Box 641, University of Rochester School of Medicine, Rochester, NY 14642 (Dr Rowley).

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ABSTRACT