Related Experiment Video
Updated: Jun 15, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal
Lucie Petigas1, Ndiogou Seck2,3, Dominique Doupa2,4
1Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.
Insights
Neonatal screening for sickle cell disease (SCD) in Senegal significantly reduces complications compared to clinical diagnosis after symptom onset. Early detection through screening improves outcomes and lessens treatment intensity for SCD patients.
Area of Science:
- Hematology
- Public Health
- Pediatrics
Background:
- Sickle cell disease (SCD) is a significant cause of illness and death in sub-Saharan Africa.
- Early detection via neonatal screening can improve patient outcomes.
- Systematic newborn screening for SCD is not yet standard practice in Senegal.
Purpose of the Study:
- To compare outcomes of SCD diagnosed through neonatal screening versus clinical diagnosis after symptom presentation.
- To evaluate the effectiveness of early SCD detection in Senegal.
Main Methods:
- Retrospective study of two cohorts of children diagnosed with SCD in St. Louis, Senegal (2010-2020).
- Cohort A: Infants identified through neonatal screening.
- Cohort B: Children diagnosed clinically after symptom onset. Analysis of epidemiological, clinical, and management data.
Main Results:
- Neonatal screening (Cohort A) diagnosed 40 infants at a mean age of 70.48 days, with fewer complications and less intensive treatment needs.
- Clinical diagnosis (Cohort B) involved 39 children diagnosed at a mean age of 21.9 months, presenting with higher rates of hospitalization, transfusions, and acute anemia.
- Vaccination and antibiotic prophylaxis rates were high in both cohorts.
Conclusions:
- Neonatal screening facilitates early SCD diagnosis, reducing complications and enabling timely interventions.
- Children diagnosed after symptom onset experience more severe disease.
- Implementing widespread neonatal screening aligns with public health goals, reducing morbidity, mortality, and healthcare burdens.
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.
