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Optical absorbance-based rapid test for the detection of sickle cell trait and sickle cell disease at the point-of-care
Spectrochimica Acta Part A: Molecular and Biomolecular Spectroscopy ( IF 4.4 ) Pub Date : 2022-05-21 , DOI: 10.1016/j.saa.2022.121394
Rajesh Srinivasan 1 , V R Eugene Christo 1 , Radhika Nambannor Kunnath 1 , Prateek Katare 1 , Aravind Venukumar 1 , Nisanth K M Nambison 2 , Sai Siva Gorthi 1
Affiliation  

People afflicted with sickle cell disease (SCD) experience severe deterioration in quality of life. The disease is characterized by debilitating pain, anemia, and increased susceptibility to life threatening infections. This genetic disorder is endemic to many parts of the world. Extensive and accurate screening of individuals with sickle cell trait (SCT) in the population, coupled with genetic counselling can inhibit the propagation of the disease. The gold-standard techniques for the detection of sickle hemoglobin, such as capillary electrophoresis, HPLC, and genetic testing, are prohibitively expensive and time-consuming. Mass screening is usually conducted with a low-cost test called the solubility test, which does not offer high specificity. This study proposes a game-changing single-step low-cost method for rapidly yet accurately screening and diagnosing SCD and SCT. This method relies on the hitherto unexplored differences in the optical absorbance between diseased, trait, and normal blood samples, under deoxygenated conditions. The proposed method was tested in two phases of clinical validation: a pilot study and a blind study. A total of 438 patient samples were tested using the proposed method across the two phases. The proposed method offers an average accuracy, sensitivity, and specificity of 97.6%, 96.9%, and 98.6%, respectively. The proposed test has the potential to obliviate the conventional two-step process of screening and diagnostic tests as it can be used at the point-of-care with minimal training and yet yield results reliable enough to assess disability benefit claims.



中文翻译:

基于吸光度的快速检测镰状细胞性状和镰状细胞病的即时检测

患有镰状细胞病 (SCD) 的人的生活质量会严重恶化。这种疾病的特征是使人衰弱的疼痛、贫血和对威胁生命的感染的易感性增加。这种遗传疾病是世界许多地方的地方病。对人群中具有镰状细胞性状(SCT)的个体进行广泛而准确的筛查,再加上遗传咨询,可以抑制疾病的传播。用于检测镰状血红蛋白的金标准技术,如毛细管电泳、HPLC 和基因检测,非常昂贵且耗时。大规模筛选通常使用称为溶解度测试的低成本测试进行,该测试不提供高特异性。本研究提出了一种改变游戏规则的单步低成本方法,用于快速而准确地筛查和诊断 SCD 和 SCT。该方法依赖于在脱氧条件下,患病、性状和正常血液样本之间的光吸光度的迄今为止尚未探索的差异。所提出的方法在临床验证的两个阶段进行了测试:初步研究和盲研究。使用所提出的方法在两个阶段共测试了 438 个患者样本。所提出的方法的平均准确度、灵敏度和特异性分别为 97.6%、96.9% 和 98.6%。

更新日期:2022-05-21
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