Results from a Pilot Study in the Portuguese Population on Newborn Screening for Sickle Cell Disease
In this publication, the authors determine the incidence of Sickle Cell Anemia and other structural hemoglobinopathies in the neonatal population of the Murcia region (Spain), and assess the benefit of newborn screening for SCD.
This study evaluates the effectiveness of universal newborn screening for Sickle Cell Disease (SCD) in the Murcia region between 2016 and 2023. SCD is a hereditary blood disorder caused by hemoglobin S, which distorts red blood cells and leads to vaso-occlusive crises, organ damage, severe infections, and increased childhood mortality. Early diagnosis is essential, as preventive measures -such as penicillin prophylaxis and parental education- significantly improve the prognosis.
The study covered more than 100,000 newborns screened via Capillary Electrophoresis using heel-prick blood samples. The majority of the 500 cases detected and confirmed by genetic testing involved carriers, specifically of Hb S or Hb C. The prevalence of Sickle Cell Anemia (Hb SS) and Hb SC disease was estimated at approximatively 1 per 10,000 births.
The program also offered genetic counseling, although language and socioeconomic barriers sometimes limited participation. The authors conclude that universal screening enables early treatment, specialized follow-up, and improved prevention, thereby justifying its continued implementation in regions experiencing increased migration flows.
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A high-throughput Capillary Electrophoresis solution for newborn screening of hemoglobin disorders.
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