AUTHOR=Tegha Gerald , Topazian Hillary , Kamthunzi Portia , Howard Thad , Tembo Zondwayo , Mvalo Tisungane , Chome Nelecy , Kumwenda Wiza , Mkochi Tawonga , Hernandez Arielle , Ataga Kenneth , Hoffman Irving , Ware Russell 

TITLE=Prospective Newborn Screening for Sickle Cell Disease and Other Inherited Blood Disorders in Central Malawi

JOURNAL=International Journal of Public Health

VOLUME=66

YEAR=2021

URL=https://www.ssph-journal.org/journals/international-journal-of-public-health/articles/10.3389/ijph.2021.629338

DOI=10.3389/ijph.2021.629338

ISSN=1661-8564

ABSTRACT=<p><bold>Objectives:</bold> 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.</p><p><bold>Methods:</bold> 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.</p><p><bold>Results:</bold> 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.</p><p><bold>Conclusion:</bold> Inherited hematological disorders are common in Central Malawi; early identification through newborn screening can improve clinical outcomes and should be supported throughout Africa.</p>