Sickle cell disease (SCD) is the most common single gene disorder in African Americans. Other high-risk infant populations include the Mediterranean countries, Turkey, the Arabian and Indian subcontinent, Hispanic persons in the United States, and people from the Caribbean and South and Central America. SCD can now be diagnosed in the neonatal period and pediatricians should familiarize themselves with their particular state’s screening program. A screening sample should always be obtained before blood transfusion regardless of gestational age.

A high-risk infant not screened at birth or who is missing documentation should be screened by hemoglobin electrophoresis as soon as possible. For infants with positive results, confirmatory testing should be performed at least before 2 months of age so that parents can be educated and penicillin prophylaxis started.