Department of Instrumentation and Applied Physics, Indian Institute of Science, Bangalore, India.
Government Homeopathic Medical College and Hospital, Bhopal, Madhya Pradesh, India.
Spectrochim Acta A Mol Biomol Spectrosc. 2022 Oct 15;279:121394. doi: 10.1016/j.saa.2022.121394. Epub 2022 May 21.
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.
患有镰状细胞病 (SCD) 的人会经历生活质量的严重恶化。该疾病的特征是衰弱性疼痛、贫血和增加对危及生命的感染的易感性。这种遗传性疾病在世界许多地区都存在。对人群中镰状细胞特征 (SCT) 的个体进行广泛和准确的筛选，并结合遗传咨询，可以抑制疾病的传播。检测镰状血红蛋白的金标准技术，如毛细管电泳、HPLC 和基因测试，既昂贵又耗时。大规模筛查通常使用一种称为溶解度测试的低成本测试进行，该测试特异性不高。本研究提出了一种具有变革性的单步低成本方法，用于快速而准确地筛查和诊断 SCD 和 SCT。该方法依赖于迄今为止尚未探索的在缺氧条件下，患病、特征和正常血液样本之间的光学吸收率差异。该方法在两个临床验证阶段进行了测试：一个试点研究和一个盲法研究。在这两个阶段，共对 438 个患者样本进行了该方法的测试。该方法的平均准确率、灵敏度和特异性分别为 97.6%、96.9%和 98.6%。该测试有可能消除传统的两步筛选和诊断测试过程，因为它可以在床边使用，只需最少的培训，并且可以产生足够可靠的结果来评估残疾福利索赔。
