ORIGINAL RESEARCH article

Front. Pediatr.

Sec. Children and Health

Volume 13 - 2025 | doi: 10.3389/fped.2025.1578570

This article is part of the Research TopicAnemia in Children: From Nutritional Deficits to Genetic DisordersView all 5 articles

Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal

Provisionally accepted
Lucie  PetigasLucie Petigas1*Ndiogou  SeckNdiogou Seck2,3Dominique  DoupaDominique Doupa2Ibrahima  DiagneIbrahima Diagne2,3Matthias  Roth-KleinerMatthias Roth-Kleiner1,4
  • 1Université de Lausanne, Lausanne, Switzerland
  • 2Center for Research and Ambulatory Management of Sickle Cell Disease (CERPAD), St-Louis, Senegal
  • 3Gaston Berger University, Saint-Louis, Saint-Louis, Senegal
  • 4Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Vaud, Switzerland

The final, formatted version of the article will be published soon.

Introduction: Sickle cell disease (SCD) is a major contributor to morbidity and mortality in sub-Saharan Africa, and early detection through neonatal screening can improve outcomes. In Senegal, systematic screening is not yet implemented. This study describes two cohorts of children diagnosed with SCD: those identified through neonatal screening and those diagnosed clinically after presenting symptoms. Methods: This retrospective study involved two cohorts of children diagnosed with SCD in St. Louis, Senegal, between 2010 and 2020-one through neonatal screening (A) and the other clinically (B). Epidemiological, clinical, and management data were analyzed. Results: Cohort A included 17,083 screened infants (74% screening rate), with 40 diagnosed at a mean age of 70.48 days, showing low complication rates and requiring less intensive treatment. Cohort B, with 39 clinically diagnosed children, had a mean diagnosis age of 21.9 months, with higher rates of hospitalizations, transfusions, and acute anemia. Vaccination and antibiotic prophylaxis were high in both cohorts. Discussion: Neonatal screening enables early diagnosis, reducing complications and enabling timely interventions, while children diagnosed after symptoms face more severe disease. Early genetic counseling and addressing consanguinity are key for better outcomes. Challenges such as limited funding, equipment, and trained personnel must be addressed for broader implementation. Conclusion: Neonatal screening aligns with public health goals by reducing morbidity and mortality, and the long-term economic burden on families and healthcare systems. It is particularly relevant in the context of increasing global migration patterns, underscoring the need for such programs worldwide.

Keywords: Neonatal Screening, Sickle Cell Disease, hemolytic anemia, Senegal, Health Disparities

Received: 17 Feb 2025; Accepted: 05 May 2025.

Copyright: © 2025 Petigas, Seck, Doupa, Diagne and Roth-Kleiner. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Lucie Petigas, Université de Lausanne, Lausanne, Switzerland

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