This study, involving the Hospital Clínic of Barcelona, the VHIR, and 13 regional hospitals in Catalonia, has described, for the first time, the incidence and other epidemiological data of SCD and other hemoglobinopathies in Catalonia. Additionally, it has shown the positive impact of neonatal screening on the clinical course of children with SCD. The results, published in the International Journal of Neonatal Screening (https://www.mdpi.com/2409-515X/10/4/69), show a clear reduction in the number of complications, hospitalizations, and transfusions in these patients, thanks to early detection and the rapid implementation of preventive treatments.
SCD is an inherited genetic disorder affecting the red blood cells. This condition is characterized by the production of abnormal haemoglobin, causing red blood cells to adopt a crescent or sickle shape. These deformed cells are more fragile and break easily, leading to chronic anaemia, inflammation, and blockages in small blood vessels, causing pain and organ damage. Symptoms include severe pain, anaemia, increased susceptibility to infections, and delayed growth in children.
Since 2015, Catalonia has incorporated SCD into its Neonatal Screening Program, and by 2022, over 500,000 newborns have been screened. This retrospective study, involving collaboration among coordinating hospitals (Hospital Clínic and Vall d'Hebron Hospital) and other centres treating this patient group, has analysed the screening effects on 100 newborns diagnosed early and compared the results with 95 unscreened children. Children diagnosed through the program began early prophylactic treatment with penicillin and hydroxyurea, reducing complications such as vaso-occlusive crises and severe infections.
The principal investigator of the study, Dr. José Manuel González de Aledo, laboratory specialist in the Inborn Errors of Metabolism Section-IBC at Hospital Clínic de Barcelona and responsible for the neonatal screening of SCD in Catalonia’s Neonatal Screening NBS Program (), highlights the importance of this study for calculate the incidence of SCD and other hemoglobinopathies in our population, previously unknown. He also emphasizes the importance of introducing SCD NBS as a public health program, which has allowed the development of measures to reduce clinical complications and support families with affected children. Finally, he underscores the close collaboration among the NBS Laboratory at Hospital Clínic de Barcelona, the Vall d'Hebron Clinical Reference Unit, and the Public Health Agency of Catalonia (ASPCAT), which has allowed this NBS Program to grow and evolve in the interests of newborns since 2015.
Dr. Pablo Velasco, Paediatric Oncology and Haematology Physician at Vall d'Hebron Children’s and Women's Hospitals, a predoctoral researcher in the VHIR research group on Childhood Cancer and Haematological Diseases, and coordinator of the Paediatric Haematology Working Group of the Catalan Paediatric Society, which has coordinated participation from Catalan centres monitoring these patients, emphasizes that "the article is innovative because it demonstrates for the first time how the implementation of NBS affects children with SCD, leading to fewer complications, hospitalizations, and transfusions."
Velasco further explains that "the data presented justify screening in countries where it has not yet been implemented, as it reduces patient morbidity and likely the cost of disease management." Therefore, the implications of these results extend beyond Catalonia, as in regions like Africa, where 75% of SCD patients reside and infant mortality from this disease is alarmingly high (between 50% and 90% before the age of five), implementing similar screening could save thousands of lives.
This study is a step forward in the research and fight against SCD and reinforces the importance of early detection to improve the health and survival of affected children.
Study reference:
González de Aledo-Castillo JM, Argudo-Ramírez A, Beneitez-Pastor D, Collado-Gimbert A, Almazán Castro F, Roig-Bosch S, Andrés-Masó A, Ruiz-Llobet A, Pedrals-Portabella G, Medina-Santamaria D, et al. Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events. International Journal of Neonatal Screening. 2024; 10(4):69. https://doi.org/10.3390/ijns10040069
