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Updated: Feb 24, 2026
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
The pressing need for point-of-care diagnostics for sickle cell disease: A review of current and future technologies
Patrick T McGann1, Carolyn Hoppe2
1Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Insights
Sickle cell disease (SCD) diagnosis is critical, especially in sub-Saharan Africa. New point-of-care (POC) diagnostic tools offer hope for early detection and improved outcomes in resource-limited settings.
Area of Science:
- Hematology
- Medical Diagnostics
- Global Health
Background:
- Sickle cell disease (SCD) is a prevalent, life-threatening inherited blood disorder affecting over 300,000 newborns annually.
- High SCD birth rates in sub-Saharan Africa, coupled with diagnostic challenges, lead to high infant mortality.
- Current diagnostic methods are costly, complex, and time-consuming, hindering access in resource-limited areas.
Purpose of the Study:
- To review the global burden of sickle cell disease.
- To discuss the rationale behind developing point-of-care (POC) diagnostic assays for SCD.
- To provide an overview of currently developed POC diagnostic devices for SCD.
Main Methods:
- Literature review of SCD global burden.
- Analysis of the need for improved SCD diagnostics.
- Review of existing and emerging POC diagnostic technologies for SCD.
Main Results:
- SCD disproportionately affects sub-Saharan Africa, with significant mortality due to diagnostic delays.
- Development of POC diagnostics is driven by the need for inexpensive, simple, and practical solutions.
- Several POC devices for SCD diagnosis are under development, spurred by initiatives like NIH funding.
Conclusions:
- Improving SCD diagnosis in high-prevalence regions is crucial for reducing mortality.
- POC diagnostic assays are essential for timely and accessible SCD detection in resource-limited settings.
- Ongoing development of POC technologies promises to enhance SCD management globally.
Abstract:
Sickle cell disease (SCD) is a common and life threatening inherited blood disorder, affecting over 300,000 newborns per year. Over 75% of SCD births occur in sub-Saharan Africa, where the lack of timely and accurate diagnosis results in premature death within the first few years of life for a majority of affected infants. Current methods to diagnosis SCD require expensive laboratory equipment and reagents, and adequately trained laboratory personnel. In addition, test results are often delayed due to transport and batching of samples in a central laboratory. Financial and technical limitations often preclude any form of SCD laboratory testing at the local level in regions where SCD is most prevalent. There has been a recent surge of interest in addressing the global burden of SCD, including improving and optimizing diagnostic capacities. Largely stimulated by a funding opportunity from the NIH, several point-of-care diagnostics have been developed for SCD with a focus on developing devices that are inexpensive, simple, and practical in limited resource settings. In this manuscript, we review the global burden of SCA, including the rationale for the development of POC assays, and carefully review the POC devices currently in development.
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