SickleInAfrica Consortium: A Seven-Country Study Evaluating the Performance of Dried Blood Spot Point-of-Care Testing...

Area of Science:

• Public Health
• Genetics
• Medical Diagnostics

Background:

• Sickle cell disease (SCD) significantly impacts sub-Saharan Africa (SSA), affecting ~200,000 newborns annually.
• High mortality rates (up to 50% before age five) underscore the need for early diagnosis and care.
• Current diagnostic methods (IEF, HPLC, electrophoresis) face logistical challenges in SSA, hindering newborn screening (NBS) implementation.

Purpose of the Study:

• To evaluate the diagnostic accuracy of Dried Blood Spot Point-of-Care Testing (DBS-POCT) for SCD in newborns.
• To compare DBS-POCT performance against standard point-of-care testing (POCT) and reference laboratory methods.
• To assess the utility of DBS-POCT for expanding NBS programs in resource-limited African settings.

Main Methods:

• A diagnostic accuracy study involving 705 newborns (0-3 months old) across seven SSA countries.
• Utilized the HemoTypeSC test for DBS-POCT analysis.
• Compared DBS-POCT results with standard POCT and reference laboratory testing.

Main Results:

• DBS-POCT demonstrated high sensitivity and specificity for HbAA and HbAS genotypes.
• Moderate sensitivity was observed for HbSS, and lower sensitivity for HbAC, with some inter-country variability.
• DBS-POCT outperformed standard POCT in several countries, particularly for SCD subtype detection.

Conclusions:

• DBS-POCT is a viable and potentially scalable tool for newborn screening of sickle cell disease in SSA.
• The HemoTypeSC DBS-POCT offers advantages over traditional methods in resource-limited settings.
• Findings support the broader implementation of DBS-POCT to improve SCD diagnosis and outcomes in Africa.