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Newborn screening results for sickle cell disease from the ASH Consortium on Newborn Screening in Africa (CONSA)
Bernard Awuonda1, Charles Kiyaga2, Lulu Fred Chirande3
1Jaramogi Oginga Odinga Teaching and Referral Hospital, Kisumu, Kenya.
Insights
The Consortium on Newborn Screening in Africa (CONSA) pilot program screened nearly 175,000 newborns for sickle cell disease (SCD), finding a 1.46% prevalence. Gaps in confirmatory testing and clinical follow-up persist despite program efforts.
Area of Science:
- Public Health
- Hematology
- Genetics
Background:
- Sickle cell disease (SCD) is a major public health concern in sub-Saharan Africa.
- Newborn screening (NBS) is crucial for early detection and management of SCD.
- The Consortium on Newborn Screening in Africa (CONSA) was established to address these needs.
Purpose of the Study:
- To initiate and expand sustainable NBS programs for SCD in sub-Saharan Africa.
- To assess the prevalence of SCD and related hemoglobinopathies in the screened population.
- To evaluate the effectiveness of the NBS program, including confirmatory testing and clinical care enrollment.
Main Methods:
- A multi-year pilot program involving eleven clinical sites in seven sub-Saharan African countries.
- Training of laboratory and clinical personnel for NBS.
- Collection and isoelectric focusing testing of dried blood spots from newborns.
- Confirmatory testing and clinical follow-up for infants with positive screening results.
Main Results:
- Nearly 175,000 samples were collected and assessed by November 2025.
- Overall SCD prevalence was 1.46%, with significant variation across sites (highest in Mwanza, Tanzania at 2.00%).
- HbSS was the most common genotype (81.5%), followed by HbSC (11.0%) and HbSb+ thalassemia (7.5%).
- Hemoglobin S trait averaged 16.17%, with Hemoglobin C trait at 1.59%.
- Confirmatory testing was documented for about one-third of positive screens (87.8% confirmed SCD).
- Fewer than half of affected infants had documented clinical follow-up.
Conclusions:
- CONSA has significantly advanced NBS for SCD in sub-Saharan Africa.
- Persistent challenges exist in confirmatory testing and clinical care enrollment.
- Further efforts are needed to ensure comprehensive care for infants identified through NBS.
Abstract:
The Consortium on Newborn Screening in Africa (CONSA), launched by the American Society of Hematology in 2020, is designed to initiate and expand sustainable newborn screening (NBS) programs for sickle cell disease (SCD) across sub-Saharan Africa. This multiyear pilot program includes 11 clinical sites in 7 countries, namely Ghana, Kenya, Liberia, Nigeria, Tanzania, Uganda, and Zambia. After extensive training of laboratory and clinical personnel, dried blood spots were collected from newborns and tested by isoelectric focusing at central laboratories within each country. Positive samples were confirmed, and the affected infants were invited into clinical care for penicillin prophylaxis, malaria prevention, routine immunizations, and family education. As of November 2025, almost 175 000 samples have been collected and assessed. The overall prevalence of SCD was 1.46%, with the highest prevalence in Mwanza, Tanzania (2.00%). The majority of positive screening results were homozygous HbSS (81.5%), along with compound heterozygous HbSC (11.0%) and HbSβ+ thalassemia (7.5%). Hemoglobin S trait was common throughout the countries with an average of 16.17%, whereas hemoglobin C trait had an incidence of 1.59% and was found primarily in Ghana and Nigeria. Additional hemoglobin variants were also detected in several countries. Confirmatory samples have been documented in about one-third of infants with a positive screening result, with 87.8% of those confirmed to have SCD. Fewer than half of the affected infants have documented clinical follow-up at CONSA sites for various logistical and financial reasons. CONSA has made great strides in promoting NBS for SCD in sub-Saharan Africa, but gaps in the confirmatory testing and enrollment into clinical care persist.
