Sickle-cell disease not identified by newborn screening because of prior transfusion.

Reed, W; Lane, P A; Lorey, F; Bojanowski, J; Glass, M; Louie, R R; Lubin, B H; Vichinsky, E P · J Pediatr · 2000

case_report · Level V

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Abstract

Erythrocyte transfusion can impair detection of sickle-cell disease, galactosemia, or biotinidase deficiency with newborn screening. We report on 4 infants with SCD in whom delayed diagnosis was associated with neonatal transfusion. In 2 cases, the initial newborn screening showed no hemoglobin S. In no case was the recommended screening >/=120 days from the last transfusion obtained. Two children had significant SCD-related morbidity before diagnosis.

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