FLOW CYTOMETRY FOR THE DIAGNOSIS OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY: A SYSTEMATIC REVIEW AND META-ANALYSIS

Résumé fourni par la source

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymopathy and remains difficult to diagnose, particularly in heterozygous females. Flow cytometry has emerged as a quantitative diagnostic approach capable of detecting deficient erythrocyte populations. This systematic review and meta-analysis evaluated its diagnostic accuracy for G6PD deficiency. Following PRISMA guidelines, PubMed/MEDLINE and the BVS platform, including LILACS, were searched for studies published between 1985 and 2025. Studies comparing flow cytometry with quantitative spectrophotometry and/or genotyping were included. Risk of bias was assessed using QUADAS-2, and pooled sensitivity and specificity were estimated using bivariate random-effects models. Four studies comprising 857 participants (63.1% female) met the inclusion criteria. Flow cytometry demonstrated pooled sensitivity of 92.6% (95% CI: 84.8–96.5) and specificity of 97.2% (95% CI: 90.1–99.3). Although methodological differences contributed to study heterogeneity, the findings consistently showed high diagnostic accuracy. Flow cytometry represents a valuable complement to conventional diagnostic methods, particularly for identifying heterozygous females and supporting safe antimalarial treatment by reducing the risk of drug-induced haemolysis in malaria-endemic settings.

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