Newborn screening results for sickle cell disease from the ASH Consortium on Newborn Screening in Africa (CONSA)

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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.

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