A Review of Advancements in Laboratory Diagnostics For Sickle Cell Disease

Abstract

Sickle Cell Disease (SCD) is a global health concern that significantly impacts morbidity, mortality, and quality of life. Early detection and comprehensive care have been shown to improve outcomes, but access to accurate and cost-effective diagnostic tools remains a challenge, particularly in low- and middle-income countries. Traditional laboratory methods, such as electrophoresis, isoelectric focusing, high-performance liquid chromatography, and DNA identification techniques, are highly accurate but often inaccessible due to high costs, resource limitations, and logistical barriers. This review examines the advantages and limitations of current SCD diagnostic techniques and explores recent advancements in point-of-care testing (POCT) that aim to improve access to screening and diagnosis. Emerging POCT methods, including lateral flow strips, paper-based tests, smartphone-based diagnostics, aqueous multiphase systems, HemeChip, microfluidic paper-based devices, shear gradient microfluidic adhesion systems, electrical impedance microflow cytometry, and spatio-temporal cell dynamics analysis, offer promising alternatives for resource-limited settings. However, these techniques must address challenges related to sensitivity, specificity, cost, portability, and training requirements. The integration of innovative POCT technologies with traditional laboratory methods has the potential to enhance early detection and treatment of SCD, ultimately reducing the global burden of the disease. Collaborative efforts between global health organizations, governments, and research institutions are crucial for developing, scaling, and implementing accessible diagnostic solutions for SCD in underserved populations.