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Updated: Jun 14, 2025
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Sustainability of newborn screening for sickle cell disease in resource-poor countries: A systematic review
Chinwe O Okeke1,2, Chinedu Okeke1,3, Samuel Asala1,4
1Center of Excellence for Sickle Cell Disease Research and Training University of Abuja (CASRTA), Abuja, Nigeria.
Insights
Establishing sustainable newborn screening (NBS) programs for sickle cell disease (SCD) in Africa is crucial. Prioritizing government funding, integration into national health systems, and context-specific screening methods like DBS on HemoTypeSC are key to success.
Area of Science:
- Genetics and Public Health
- Neonatal Screening Programs
- Global Health Equity
Background:
- Sickle cell disease (SCD) is a prevalent global genetic blood disorder, with over 75% of affected newborns in sub-Saharan Africa.
- Despite the critical need, sustainable newborn screening (NBS) programs for SCD are lacking in low-income, high-burden countries, leading to high daily mortality rates.
- Existing NBS implementation efforts often fail to guarantee long-term sustainability.
Purpose of the Study:
- To systematically identify and highlight strategies for ensuring the sustainability of NBS programs for SCD in low-income, high-burden regions.
- To analyze existing literature on government participation, program scaling, and patient enrollment in NBS for SCD.
- To inform the development of effective and enduring NBS programs in sub-Saharan Africa.
Main Methods:
- A systematic literature search was conducted on PubMed and Google Scholar for articles published between 2012 and 2022 on NBS sustainability for SCD.
- Articles focusing on sustainability, government participation, scaling up, expansion, and patient enrollment were included; those lacking these outcomes were excluded.
- Thematic content analysis was applied to eleven selected articles, with data extracted and analyzed using inductive and deductive codes.
Main Results:
- Nine major themes emerged from the analysis of the selected literature.
- Complete integration of NBS services into national healthcare systems is a frequently cited core element for program sustainability.
- Prioritizing government funding and early engagement from government partners is essential for successful NBS program development.
Conclusions:
- Sustainable NBS programs in low-income, high-burden countries require strong government commitment, integration into national health systems, and sustained funding.
- Tailoring screening methods to local contexts, such as utilizing Dried Blood Spot (DBS) on HemoTypeSC, can significantly enhance the scalability and expansion of NBS programs in Sub-Saharan Africa.
- Addressing these factors is vital to reduce mortality and improve health outcomes for children with sickle cell anemia (SCA).
Abstract:
Sickle cell disease (SCD) is a worldwide genetic blood disorder. Roughly 400,000 babies are born with SCD each year worldwide. More than 75% of these births occur in sub-Saharan Africa. The establishment of sustainable newborn screening NBS programs is an excellent approach to improving the health of persons living with SCD. The need to set up such programs in Africa cannot be overemphasized. However, initial implementation does not guarantee sustainability. More than 500 children with sickle cell anaemia (SCA) die every day due to lack of access to early diagnosis and related treatment. We systematically highlighted suggestions proffered so far, for the sustainability of NBS in low income, high burden countries. We searched online databases, PubMed, and Google Scholar for literature on sustainability of newborn screening (NBS) published between 2012 and 2022. Articles were included if they reported as outcome; sustainability, government participation, scaling up and expansion of NBS, improved patient enrolment in the newborn screening programe. Articles not suggesting same were excluded. Data were extracted from published reports. Primary outcome was government participation and enhanced patient enrolment in the NBS programe. Thematic content analysis was applied using inductive and deductive codes. We came up with 9 major themes. This study is registered with PROSPERO with registration number as CRD42023381821. Literature search yielded 918 articles (including manual searching). After screening, nine (9) publications were suitable for data extraction and analysis. Two more articles were added by manual searching, making a total of eleven (11) articles. The most frequently addressed core elements of sustainability in these papers were complete integration of services into national health care systems for sustainability of NBS programs in Low-income high-burden countries, funding and engagement from government partners from the very beginning of program development should be prioritized. Screening should be tailored to the local context; using DBS on HemoTypeSC could be a game changer for scaling up and expanding the newborn screening program in Sub-Saharan Africa.
