Unveiling the Burden of Sickle Cell Anemia: A Pilot Study Validating Dried Blood Spots for Newborn Screening

This hospital-based cross-sectional study aimed to screen newborns for sickle cell anemia immediately after birth and validate dried blood spot (DBS) samples against conventional venous blood samples (CBS) for hemoglobin variant analysis by HPLC. Among 751 newborns, 2.93% were found to have sickle cell trait. Hemoglobin variants were analyzed in both DBS and CBS samples, showing good agreement with 100% sensitivity and 100% specificity. Passing Bablok regression indicated minimal proportional bias, while Bland-Altman analysis showed a bias of 0.67, but the line of equality within the 95% CI of the bias indicated acceptable minimal systematic bias. The concordance correlation coefficient was 0.91 (p < 0.0001), Pearson's ρ (precision measure) was 0.967, and Cohen's kappa statistics gave a weighted kappa of 0.93, confirming no significant differences between the two methods. This study supports DBS as a reliable method for universal neonatal screening for sickle cell disease, demonstrating its potential for widespread clinical use.