What is the recommended approach for screening for sickle cell disease in children before school enrollment, particularly for those from high-risk ethnic backgrounds?

Screening for Sickle Cell Disease Before School Enrollment

Universal newborn screening, not school-entry screening, is the recommended approach for detecting sickle cell disease in all children, as all 50 U.S. states, the District of Columbia, Puerto Rico, the U.S. Virgin Islands, and the U.S. military perform universal newborn screening for hemoglobinopathies with 99.5-100% sensitivity and specificity. 1

For Children Born in the United States After 1987

• No additional screening is needed at school entry if the child underwent newborn screening, as routine screening has been standard since 1987 following National Institutes of Health recommendations 1
• Newborn screening results should be documented in the medical record and discussed with families at diagnosis, school entry, preadolescence, and transition to adult care 1
• School performance monitoring is a critical component of ongoing care for children with known SCD, as academic or neurodevelopmental problems may warrant assessment including brain MRI/MRA for silent cerebral lesions and neurocognitive testing 2

For High-Risk Children Without Prior Screening

For children born outside the U.S., immigrants, or those born before 1987, order hemoglobin electrophoresis directly as the initial test, which provides comprehensive hemoglobin phenotype information in a single test. 1

Specific populations requiring testing:

• Children from sub-Saharan Africa, where most babies homozygous for the sickle hemoglobin gene are born 3
• Children from the Mediterranean, Middle East, and India 4
• Children with African family background have the highest prevalence (0.56% disease prevalence in one Italian screening study) 5

Testing methodology:

• Hemoglobin electrophoresis is the gold standard confirmatory test that separates and identifies different hemoglobin types, including HbA, HbS, HbC, and HbF 1
• Never use solubility testing alone for definitive diagnosis, as it cannot differentiate between trait (HbAS) and disease (HbSS, HbSC) 6, 1
• Point-of-care tests can be used for initial screening in primary care settings, with positive results requiring referral to specialized centers for confirmation 5

Universal Preoperative Screening Is Not Recommended

Universal preoperative screening for SCD is not recommended by any reviewed reports or guidelines. 2

• If neonatal screening for hemoglobinopathies is implemented locally, preoperative screening is not needed 2
• If neonatal screening is not available, preoperative screening in patients from endemic regions is suggested in several reviews 2
• Screening targeted to all non-Caucasians has ethical limitations and is not recommended 2

Critical Actions for Children With Identified SCD at School Entry

Academic accommodations:

• Assistance is needed in pursuing educational accommodations such as a 504 plan and/or an individualized education program to optimize learning 2
• Positive developmental screenings for language or cognitive delays predict more frequent academic/attentional problems at school, grade retention, and lower academic performance 7
• Children with concerning language/cognitive screenings have early-onset school difficulties and may require earlier intervention 7

Ongoing disease monitoring:

• Transcranial Doppler ultrasonography screening for stroke risk in HbSS and Sβ0-thalassemia starting at age 2 2
• At least one nonsedated MRI scan of the brain to detect silent cerebral infarct during childhood, as silent cerebral infarcts occur in at least 35% of children with SCD 2
• Screening for cognitive impairment and developmental delays with standardized questionnaires 2

Common Pitfalls to Avoid

• Do not assume negative newborn screening in individuals born before 1987 or outside the U.S. - order confirmatory testing 1
• Do not rely on parental memory of test results - documentation of both parents' hemoglobin testing is essential to establish accurate genetic risk 6
• Do not delay comprehensive care for children with known SCD, as functional asplenia develops early and infection risk is immediate 6
• Do not use school-entry as the primary screening opportunity when universal newborn screening is available and more effective 1