Haemoglobin disorders, including sickle cell disease (SCD), affect over 500,000 infants worldwide each year, making early detection crucial for improving health outcomes. Newborn screening (NBS) for SCD, introduced in the 1970s and included in the Recommended Uniform Screening Panel (RUSP) in 2006, has been a public health success, improving childhood survival rates. However, NBS programmes across different regions vary in their practices for haemoglobinopathy screening, leading to health inequities and hindering public health efforts.
A new analysis suggests that the universal adoption of molecular testing for haemoglobinopathy screening could address these issues. Current NBS programmes lack uniformity in testing methods, reporting, and follow-up care, often leaving genetic confirmation inconsistent. As a result, some infants receive diagnoses based solely on protein-based testing, which may not fully capture diverse genotypes that influence disease severity.
Molecular genetic testing, particularly of haemoglobin genes (HbA1, HBA2, HBB), could standardise screening processes, offering precise and comprehensive results. It would not only eliminate disparities based on location and insurance coverage but also improve timely referrals for definitive care. Despite challenges such as cost and technology integration, high-throughput methods could allow the consolidation of screening platforms for multiple diseases, improving efficiency.
The proposed shift to molecular genetic testing could revolutionise the approach to haemoglobinopathy screening, enhancing outcomes and equity in newborn care globally.
Helena Bradbury, EMJ
Reference
Quarmyne MO et al. Newborn screening for sickle cell disease and thalassemia. JAMA Health Forum. 2025;6(3):e250064.
