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A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola
Patrick T McGann1, Margaret G Ferris, Uma Ramamurthy
1Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Insights
Newborn screening for sickle cell anemia (SCA) in Angola is feasible and saves lives. Early identification and intervention dramatically reduced infant mortality, demonstrating the success of this public health strategy in Africa.
Area of Science:
- Medical research
- Public health
- Genetics
Background:
- Sub-Saharan Africa faces a high burden of sickle cell anemia (SCA), with over 300,000 infants born annually.
- High mortality rates in infants with SCA are linked to lack of diagnosis and timely intervention.
- Newborn screening (NBS) and early treatment significantly reduce SCA mortality in developed nations, but are not widely established in Africa.
Purpose of the Study:
- To design and implement a proof-of-principle NBS and treatment program for SCA in Angola.
- To focus on capacity building and local ownership for sustainable SCA management.
- To assess the feasibility and impact of NBS on infant mortality in SCA.
Main Methods:
- Collected dried bloodspots from 36,453 newborns across five birthing centers in Angola.
- Utilized isoelectric focusing and capillary electrophoresis for hemoglobin identification.
- Enrolled infants with abnormal hemoglobin patterns (FS, FSC) into a newborn clinic for penicillin prophylaxis, immunization, and education.
Main Results:
- Identified a high prevalence of sickle cell hemoglobin patterns, with 1.51% FS and 0.019% FSC.
- Successfully contacted and enrolled 54.3% of affected infants into clinical care, with excellent compliance (96.6%).
- Observed a first-year mortality rate of 6.8% for infants with SCA, which compares favorably to the national infant mortality rate of 9.8%.
Conclusions:
- Newborn screening for SCA is feasible in Angola, despite challenges in contacting all affected infants.
- Capacity building and local training are crucial for establishing functional screening programs and clinics.
- Early mortality data strongly suggest that NBS and preventive care significantly reduce mortality in infants with SCA.
Abstract:
Over 300,000 infants are born annually with sickle cell anemia (SCA) in sub-Saharan Africa, and >50% die young from infection or anemia, usually without diagnosis of SCA. Early identification by newborn screening (NBS), followed by simple interventions dramatically reduced the mortality of SCA in the United States, but this strategy is not yet established in Africa. We designed and implemented a proof-of-principle NBS and treatment program for SCA in Angola, with focus on capacity building and local ownership. Dried bloodspots from newborns were collected from five birthing centers. Hemoglobin identification was performed using isoelectric focusing; samples with abnormal hemoglobin patterns were analyzed by capillary electrophoresis. Infants with abnormal FS or FSC patterns were enrolled in a newborn clinic to initiate penicillin prophylaxis and receive education, pneumococcal immunization, and insecticide-treated bed nets. A total of 36,453 infants were screened with 77.31% FA, 21.03% FAS, 1.51% FS, and 0.019% FSC. A majority (54.3%) of affected infants were successfully contacted and brought to clinical care. Compliance in the newborn clinic was excellent (96.6%). Calculated first-year mortality rate for babies with SCA compares favorably to the national infant mortality rate (6.8 vs. 9.8%). The SCA burden is extremely high in Angola, but NBS is feasible. Capacity building and training provide local healthcare workers with skills needed for a functional screening program and clinic. Contact and retrieval of all affected SCA infants remains a challenge, but families are compliant with clinic appointments and treatment. Early mortality data suggest screening and early preventive care saves lives.
