[Recognition of children with sickle cell disease in The Netherlands]

Area of Science:

• Pediatrics
• Hematology
• Genetics

Context:

• Neonatal screening for phenylketonuria (PKU) in the Netherlands, initiated in 2007, does not identify all children with sickle cell disease (SCD).
• Approximately 20% of diagnosed SCD cases in Amsterdam involved children born abroad or adopted, who are missed by the current screening.
• SCD diagnosis should be considered in all children presenting with disease-specific symptoms, regardless of birth date or location.

Purpose:

• To highlight the limitations of the current neonatal screening program for sickle cell disease.
• To emphasize the importance of recognizing clinical signs and symptoms for timely diagnosis.
• To recommend screening for sickle cell disease in at-risk pediatric populations.

Summary:

• Sickle cell disease (SCD) diagnosis is critical, as the Dutch neonatal PKU screening misses certain groups, including immigrant and adopted children.
• Initial SCD manifestations can be severe, with pneumococcal infections and acute splenic sequestration posing life-threatening risks (8% of cases).
• Common symptoms include painful crises, pallor, and jaundice, with a median diagnosis age of 25 months in Amsterdam.

Impact:

• Advocates for testing children from at-risk populations presenting at hospitals for any reason, especially those with pneumococcal infections.
• Aims to improve early detection and management of sickle cell disease in children, reducing morbidity and mortality.
• Enhances clinical awareness of sickle cell disease symptoms beyond the neonatal screening program.