Karra Madhu Latha, Rahiman Emine A, Narahari Manasa, Bhongir Aparna Varma, Rathod Gunvanti, R Shyamkrishnan, Guduru Vijay Kumar, Kagitapu Surender, Pyati Anand, Sampath Sangeetha
Department of Biochemistry, All India Institute of Medical Sciences, Bibinagar, Hyderabad, Telangana, India.
Department of Pediatrics, Kasturba Medical College, Manipal, Udupi, Karnataka, India.
Indian J Pediatr. 2025 Apr;92(4):405-408. doi: 10.1007/s12098-024-05392-8. Epub 2025 Jan 4.
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.
这项基于医院的横断面研究旨在在新生儿出生后立即对其进行镰状细胞贫血筛查，并针对通过高效液相色谱法（HPLC）进行血红蛋白变异分析，验证干血斑（DBS）样本与传统静脉血样本（CBS）的一致性。在751名新生儿中，发现2.93%患有镰状细胞性状。对DBS样本和CBS样本均进行了血红蛋白变异分析，结果显示一致性良好，灵敏度和特异性均为100%。Passing Bablok回归表明比例偏差极小，而Bland-Altman分析显示偏差为0.67，但偏差95%置信区间内的一致性线表明系统偏差极小且可接受。一致性相关系数为0.91（p < 0.0001），Pearson相关系数ρ（精密度指标）为0.967，Cohen's kappa统计量得出加权kappa值为0.93，证实两种方法之间无显著差异。本研究支持将DBS作为镰状细胞病通用新生儿筛查的可靠方法，证明了其在临床广泛应用的潜力。
