Systematic point-of-care newborn screening for sickle cell disease in rural Mali, West Africa.

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.