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.
Highlights
In high-income countries, newborn screening occurs for over 50 congenital health conditions, supported by government funding, public education, and trained health care workers [1]
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
Testing of 10,529 cards revealed an overall sickle cell trait prevalence of 7.0%; 10 of 14 infants identified with sickle cell disease were located and received care at a specialized clinic
Summary
In high-income countries, newborn screening occurs for over 50 congenital health conditions, supported by government funding, public education, and trained health care workers [1]. In sub-Saharan Africa, newborn screening programs are limited in scope and may only screen for a single disease within restricted populations who have access to health care [2]. For conditions such as sickle cell disease (SCD), the global disparity in newborn screening neglects populations that are most at risk; 85% of SCD cases occur in Africa [3] where early-life mortality estimates range between 50 and 90%, especially in areas where there is limited clinical awareness of signs and symptoms, and where SCD diagnosis and treatment are scant or nonexistent [4]. Many affected children are only diagnosed after they develop severe symptoms or may never reach a hospital setting before death; presumably, many die without ever having the proper diagnosis established
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