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Systematic point-of-care newborn screening for sickle cell disease in rural Mali, West Africa
Aldiouma Guindo1, Kory Cablay2,3, Joseph Kamate4
1Sickle Cell Research and Control Centre (CRLD), University of Bamako, Bamako, Mali.
Insights
Point-of-care sickle cell disease (SCD) screening in rural Mali reached nearly all newborns, identifying a high prevalence of SCD and carriers. This successful program model can be expanded across sub-Saharan Africa.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Sickle cell disease (SCD) is a major cause of mortality in children under five in sub-Saharan Africa (SSA).
- Newborn screening for SCD is limited in rural SSA, creating a diagnostic gap.
- Early diagnosis and management are crucial for improving outcomes in infants with SCD.
Purpose of the Study:
- To evaluate the feasibility, coverage, and yield of a point-of-care (POC) SCD screening program in rural Mali.
- To assess the effectiveness of the HemotypeSC™ assay for newborn screening in a high-volume hospital setting.
- To determine the prevalence of SCD and sickle cell carriers among newborns in the Koutiala region.
Main Methods:
- A POC screening program using HemotypeSC™ was implemented at Koutiala Hospital for Women and Children (KHWC) from March 2019 to 2025.
- Newborns were screened within 24 hours of birth using a 10-minute blood test.
- Screening coverage, hemoglobin subtypes (HbSS, HbSC, HbCC), and carrier frequencies (HbAS, HbAC) were calculated.
Main Results:
- Over 6 years, 18,015 out of 18,164 newborns (99.2% coverage) were successfully screened.
- The study identified a prevalence of 1.34% for SCD (HbSS + HbSC) and significant carrier frequencies (17.56% overall).
- The HemotypeSC™ assay demonstrated high feasibility and yield in a rural, resource-limited setting.
Conclusions:
- Point-of-care screening with HemotypeSC™ is highly feasible and effective for identifying newborns with SCD and carriers in rural SSA.
- The program achieved near-universal coverage, highlighting its potential for scale-up.
- This model can bridge diagnostic gaps, enabling timely clinical management and reducing under-five mortality from SCD in the region.
Abstract:
Sickle cell disease (SCD) is a leading cause of under-five mortality in sub-Saharan Africa (SSA), yet newborn screening in rural settings remains scarce. We evaluated the feasibility, coverage and yield of a point-of-care (POC) screening programme at Koutiala Hospital for Women and Children (KHWC) in rural Mali, using HemotypeSC™. From March 2019 to 2025, newborns born at KHWC were offered POC screening within 24 h of birth. Heel-stick blood was applied to the HemotypeSC™ strip and results were read at 10 min. Culturally sensitive education was provided to all, and newborns with SCD were enrolled in the hospital's sickle cell programme for clinical management. Screening coverage, haemoglobin subtypes and carrier prevalence were calculated descriptively. Over 6 years, 18 164 newborns were delivered, with 18 015 (99.2%) successfully screened. We identified 118 haemoglobin SS (HbSS) (0.66%), 123 haemoglobin SC (HbSC) (0.68%) and 79 haemoglobin CC (HbCC) (0.44%). The prevalence of SCD (HbSS+HbSC) was 1.34%, with carrier frequencies of 8.89% for haemoglobin AS (HbAS) and 8.68% for haemoglobin AC(HbAC) (17.56% overall). Screening with HemotypeSC™ achieved near universal coverage in a high-volume rural hospital, identifying substantial SCD and carrier burdens. This model supports scale-up across rural SSA to bridge diagnostic gaps and link newborns to life-saving care.
