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Updated: Feb 22, 2026
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Newborn screening for sickle cell disease in Angola: Implementation challenges and emerging data on hemoglobinopathy
Miguel Brito1, Catarina Ginete2, Mariana Jacinto3
1Health and Technology Research Center, Escola Superior de Saúde de Lisboa, Instituto Politécnico de Lisboa, Portugal; CISA-INIS - Centro de Investigação em Saúde de Angola, Instituto Nacional de Investigação em Saúde, Caxito, Angola.
Insights
Newborn screening for Sickle Cell Disease (SCD) in Angola identified a high prevalence of 1.38% HbSS. Early diagnosis and follow-up are crucial, but community education is needed to improve understanding and treatment adherence.
Area of Science:
- Genetics and Hereditary Diseases
- Public Health and Epidemiology
- Pediatric Medicine
Background:
- Sickle Cell Disease (SCD) presents a significant global health challenge, particularly in sub-Saharan Africa.
- Limited access to early diagnosis in high-incidence regions hinders effective management of SCD.
- Angola faces a substantial burden of SCD, necessitating improved diagnostic and care strategies.
Purpose of the Study:
- To establish a newborn screening program for Sickle Cell Disease in a major Angolan maternity hospital.
- To facilitate pediatric follow-up and initiate prophylactic treatment for infants diagnosed with SCD.
- To assess the feasibility and impact of newborn screening for SCD in the Angolan context.
Main Methods:
- Implementation of a newborn screening program utilizing heel-prick blood samples on filter paper.
- Hemoglobin electrophoresis by isoelectric focusing for initial SCD screening.
- Confirmatory diagnostic techniques including PCR-RFLP and DNA sequencing for identified cases.
Main Results:
- Analysis of 13,256 samples revealed an HbSS prevalence of 1.38% and HbAS of 20.31%.
- Other hemoglobin variants like HbE, HbC, and alpha-globin alterations were also identified.
- Of infants diagnosed with SCD, 42% initiated regular medical follow-up and prophylactic treatment.
Conclusions:
- The study confirms the high prevalence of Sickle Cell Disease in Angola.
- Newborn screening demonstrates potential in reducing early morbidity and mortality associated with SCD.
- A significant proportion of families declined follow-up, underscoring the need for enhanced community health education regarding SCD.
Abstract:
Sickle Cell Disease (SCD) is an autosomal recessive disorder with a substantial global burden. Despite its particularly high incidence in sub-Saharan Africa, early diagnosis remains limited in many countries. The objective of this study was to implement a newborn screening programme for SCD in one of the largest maternity hospitals in Angola and to support the subsequent pediatric follow-up of the affected children. Between June 2023 and December 2024, all children born in or attending the main hospital for vaccination were screened after parental or guardian consent. Blood was collected by heel-prick onto filter paper, and haemoglobin electrophoresis was performed by isoelectric focusing. Samples identified as HbSS were confirmed by PCR-RFLP, and atypical electrophoretic patterns were further analysed by DNA sequencing. In a total of 13,256 samples analysed the prevalence of HbSS was 1.38% (n = 183), and 20.31% (n = 2692) were HbAS. Other variants identified (n = 44) included HbE, HbC, and α-globin gene alterations. Of the infants diagnosed with SCD, 106 (58%) families were successfully contacted, but only 76 (42%) children initiated regular medical follow-up and prophylactic treatment (penicillin, multivitamins, and vaccinations. 30 families (28%) declined treatment and just one declined follow-up. These findings confirm the high prevalence of SCD in Angola and demonstrate the capacity of newborn screening programmes in reducing early morbidity and mortality. However, the substantial proportion of families refusing follow-up highlights the need for strengthened community health education to improve understanding of SCD.
