Review Article

Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa

Seth Twum, Kwadwo Fosu, Robin A. Felder, Kwabena A.N. Sarpong
African Journal of Laboratory Medicine | Vol 12, No 1 | a2225 | DOI: https://doi.org/10.4102/ajlm.v12i1.2225 | © 2023 Seth Twum, Kwadwo Fosu, Robin A. Felder, Kwabena A.N. Sarpong | This work is licensed under CC Attribution 4.0
Submitted: 25 May 2023 | Published: 14 December 2023

About the author(s)

Seth Twum, West African Centre for Cell Biology of Infectious Pathogens, Accra Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Accra, Ghana
Kwadwo Fosu, West African Centre for Cell Biology of Infectious Pathogens, Accra Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Accra, Ghana
Robin A. Felder, Department of Pathology, The University of Virginia, Charlottesville, Virginia, United States
Kwabena A.N. Sarpong, West African Centre for Cell Biology of Infectious Pathogens, Accra Department of Biochemistry, Cell and Molecular Biology, University of Ghana, Accra, Ghana

Abstract

Background: Haemoglobinopathies, including sickle cell disease and β-thalassaemia, are monogenic disorders with a relatively higher prevalence among malaria-endemic areas in Africa. Despite this prevalence, most African countries lack the necessary resources for diagnosing and managing these debilitating conditions.

Aim: This study provides a critical review of newborn screening for detecting haemoglobinopathies in Africa, highlighting challenges and proposing strategies for improved diagnosis and management.

Methods: A literature search on haemoglobinopathies in Africa was conducted in PubMed, Google Scholar and ScienceDirect, using specific keywords and Boolean operators, including articles published from January 1981 to December 2022.

Results: The data show that sickle cell disease is prevalent among populations in Central and West Africa; however, β-thalassaemia is prevalent among people in the northern parts of Africa. Newborn screening pilot initiatives for haemoglobinopathies were being implemented in Angola, Nigeria, Ghana, the Democratic Republic of Congo and the Republic of Benin. The cost of testing, lack of sufficient and accessible medical records, and inadequacy in healthcare infrastructure pose significant challenges in bridging the gaps in newborn screening. Furthermore, the stigmatisation and lack of awareness of haemoglobinopathies and access to newborn screening programmes pose additional challenges.

Conclusion: This review highlights the challenges associated with haemoglobinopathy testing, effective strategies for mitigating these challenges, and future perspectives for expanding efforts toward detecting and managing these disorders across Africa. Providing affordable diagnostic tools, mobile clinics, government subsidies, education campaigns, and the implementation of electronic medical records systems could help bridge the gaps in newborn screening in Africa.

What this study adds: The study presents a comprehensive view of newborn screening of haemoglobinopathies in Africa, provides a detailed outline of the challenges faced by newborn screening for haemoglobinopathies in Africa, and offers strategies for better diagnosis and care.


Keywords

haemoglobinopathies; sickle cell disease; newborn screening; Africa; thalassaemia

Sustainable Development Goal

Goal 3: Good health and well-being

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