Screening for Sickle Cell Disease in Newborns

• The U. S. Preventive Services Task Force (USPSTF) recommends screening for sickle cell disease in newborns.
  
  Rating: "A" recommendation

Rationale:

Importance: Sickle cell anemia (hemoglobin SS) affects 1 in 375 African American newborns born in the United States and smaller proportions of children in other ethnic groups. Without prompt diagnosis and the initiation of prophylactic antibiotics and pneumococcal conjugate vaccination by 2 months of age, children with sickle cell anemia are vulnerable to life-threatening pneumococcal infections.

Detection: In the United States, most state-based screening programs utilize thin-layer isoelectric focusing (IEF) or high performance liquid chromatography (HPLC) techniques performed on capillary blood collected from a heel stick and absorbed onto filter paper. The sensitivity and specificity of each of these tests approaches 100%.

Benefits of detection and early intervention: There is good evidence that early detection of sickle cell anemia followed by prophylactic oral penicillin substantially reduces the risk of serious infections during the first few years of life. Additional benefits result from pneumococcal conjugate vaccination and parental education about early warning signs of infection. Finally, detection of sickle cell disease permits counseling for family members about disease management and future reproductive decisions.

Harms of detection and early treatment: Incidental detection of sickle cell carrier status and hemoglobin disorders of questionable clinical significance has the potential to cause psychosocial harms, which may include exposure of non-paternity, stigma and discrimination, negative impact on self-esteem, and anxiety about future health.

The USPSTF concludes that there is high certainty that the net benefit of screening for sickle cell disease in newborns is substantial.

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