Multi-Disciplinary Research Unit, Maharaja Krishna Chandra Gajapati (M.K.C.G) Medical College, Berhampur, Odisha, India.
Department of Pathology, Maharaja Krishna Chandra Gajapati (M.K.C.G) Medical College, Berhampur, Odisha, India.
PLoS One. 2024 Aug 16;19(8):e0309045. doi: 10.1371/journal.pone.0309045. eCollection 2024.
Sickle cell diseases (SCD) are the most common genetic disorders with significant morbidity and mortality worldwide, including in India. The high prevalence of this disorder in many geographical regions calls for the use of a point-of-care rapid diagnostic test (RDT) for early screening and management of the diagnosed cases to reduce the allied clinical severity. In view of this, the present study was undertaken for the validation of a point-of-care RDT kit (SICKLECHECKTM) for the screening of SCD. This validation and diagnostic accuracy study was conducted among the cases advised for screening of SCD. For validation, all the recruited cases were investigated for both the SICKLECHECKTM RDT kit and HPLC (Variant-II) considering HPLC as a gold standard. A total of 400 cases were screened for both tests. For the presence and absence of sickle cell hemoglobin in the samples, SICKLECHECKTM RDT kit results showed a sensitivity and specificity of 99.39% and 98.73% respectively with references to HPLC findings. For the detection of the 'AS' pattern, the SICKLECHECKTM RDT kit has shown a sensitivity and specificity of 99.07% and 98.81% respectively. For the detection of the 'SS' pattern, the SICKLECHECKTM RDT kit has shown a sensitivity and specificity of 97.92% and 100.0% respectively. Cases with β thalassemia trait, hemoglobin E trait, hemoglobin Lepore trait and trait for hereditary-persistence-of-fetal-hemoglobin (high HbF %) diagnosed in HPLC were resulted with 'AA' pattern in SICKLECHECKTM RDT kit. The high sensitivity and specificity of the SICKLECHECKTM RDT kit insist on its use as a point-of-care screening tool for SCD especially where there is a lack of laboratory facilities as well as in hospital-based set-up requiring immediate diagnosis and management of SCD. However, for further confirmation, the samples should be analyzed with other gold standard techniques like HPLC.
镰状细胞病(SCD)是世界范围内最常见的遗传疾病之一,具有显著的发病率和死亡率,包括在印度。这种疾病在许多地理区域的高患病率要求使用即时诊断快速检测(RDT)进行早期筛查和诊断病例的管理,以降低相关临床严重程度。鉴于此,本研究旨在验证一种即时诊断 RDT 试剂盒(SICKLECHECKTM)用于 SCD 的筛查。这项验证和诊断准确性研究是在建议进行 SCD 筛查的病例中进行的。在验证中,所有招募的病例均同时使用 SICKLECHECKTM RDT 试剂盒和 HPLC(Variant-II)进行检测,将 HPLC 作为金标准。总共对 400 例病例进行了两种检测。对于样品中是否存在镰状细胞血红蛋白,SICKLECHECKTM RDT 试剂盒的结果显示其灵敏度和特异性分别为 99.39%和 98.73%,参考 HPLC 结果。对于“AS”模式的检测,SICKLECHECKTM RDT 试剂盒的灵敏度和特异性分别为 99.07%和 98.81%。对于“SS”模式的检测,SICKLECHECKTM RDT 试剂盒的灵敏度和特异性分别为 97.92%和 100.0%。在 HPLC 中诊断为β地中海贫血、血红蛋白 E 特征、血红蛋白 Lepore 特征和遗传性胎儿血红蛋白持续存在(高 HbF%)特征的病例,在 SICKLECHECKTM RDT 试剂盒中呈现“AA”模式。SICKLECHECKTM RDT 试剂盒具有高灵敏度和特异性,坚持将其用作 SCD 的即时护理筛查工具,特别是在缺乏实验室设施以及需要即时诊断和管理 SCD 的医院环境中。然而,为了进一步确认,应使用其他金标准技术(如 HPLC)分析样本。