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Updated: Oct 26, 2025
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Prospective Newborn Screening for Sickle Cell Disease and Other Inherited Blood Disorders in Central Malawi
Gerald Tegha1, Hillary M Topazian1,2, Portia Kamthunzi1,3
1University of North Carolina Project-Malawi, Lilongwe, Malawi.
Insights
Newborn screening in Malawi found high rates of inherited blood disorders like sickle cell trait and G6PD deficiency. Early detection through screening can improve health outcomes for African children.
Area of Science:
- Hematology
- Genetics
- Public Health
Background:
- Newborn screening for congenital disorders is standard in developed nations but limited in low-resource settings, particularly in sub-Saharan Africa.
- The feasibility and effectiveness of screening for inherited hematological disorders in Africa remain undetermined.
- Sub-Saharan Africa faces a high burden of inherited hematological conditions.
Purpose of the Study:
- To determine the prevalence of sickle cell disease/trait, G6PD deficiency, and alpha thalassemia in Central Malawi.
- To assess the feasibility of repurposing existing newborn surveillance programs for hematological disorder screening.
- To evaluate the potential impact of early identification on clinical outcomes.
Main Methods:
- Dried blood spots from the HIV Early Infant Diagnosis surveillance program in Central Malawi were utilized.
- Isoelectric focusing was performed to screen for sickle cell disease and trait.
- Genetic testing was employed to identify G6PD deficiency and alpha thalassemia.
Main Results:
- Sickle cell trait prevalence was 7.0% across 10,529 samples, with sickle cell disease identified in 0.1% (10/14 infants located and received care).
- Alpha thalassemia trait was found in 45.7% of 1,329 randomly selected samples.
- G6PD deficiency affected 20.4% of males and 3.4% of females, with 29.0% of females being heterozygous carriers.
Conclusions:
- Inherited hematological disorders are highly prevalent in Central Malawi.
- Repurposing newborn screening programs is a viable strategy for early identification of these disorders.
- Establishing and supporting newborn screening initiatives across Africa is crucial for improving pediatric health outcomes.
Abstract:
Objectives: Newborn screening in the United States and Europe allows early identification of congenital disorders but does not yet exist in most low-resource settings, especially in sub-Saharan Africa. Newborn screening can identify multiple inherited hematological disorders, but feasibility and effectiveness for Africa are not fully determined. Methods: Surplus dried blood spot collected in Central Malawi through the HIV Early Infant Diagnosis surveillance program were repurposed and tested by isoelectric focusing for sickle cell disease and trait. Additional genetic testing identified G6PD deficiency and alpha thalassemia. Results: Testing of 10,529 cards revealed an overall sickle cell trait prevalence of 7.0% (range 3.9-9.7% by district); 10 of 14 infants identified with sickle cell disease (prevalence 0.1%) were located and received care at a specialized clinic. Subsequent testing of 1,329 randomly selected cards identified alpha thalassemia trait in 45.7% of samples, and G6PD deficiency in 20.4% of males and 3.4% of females, with 29.0% of females as heterozygous carriers. Conclusion: Inherited hematological disorders are common in Central Malawi; early identification through newborn screening can improve clinical outcomes and should be supported throughout Africa.
