Sharma Udyan, Upadhyay Lata Sheo Bachan
Department of Biotechnology, National Institute of Technology, Raipur, Chhattisgarh, 492010, India.
Cell Biochem Biophys. 2025 Jun;83(2):1347-1357. doi: 10.1007/s12013-024-01584-3. Epub 2024 Oct 24.
Sickle cell diseases are widespread in regions encompassing the Mediterranean, Middle East, sub-Saharan Africa, and specific parts of Asia, primarily due to the abnormal production of hemoglobin S. This genetic blood disorder stems from a mutation in the beta-globin gene, a crucial component of hemoglobin and the heme-containing protein found in red blood cells. Point mutations in the hemoglobin gene can be inherited as a heterozygous or homozygous pattern. These mutations disrupt the normal configuration of the protein, impeding its physiological function and altering the cell's shape, giving it a sickle-like appearance. The resulting sickle cells can lead to organ damage, intense physical discomfort, and anemia; in severe cases, the condition can be fatal. Early detection and effective treatment methods have the potential to progressively reduce the associated mortality rate over time. To diagnose sickle cell disease and its carrier states with unparalleled specificity, a variety of approaches have been developed. The most common method includes differential blood cell counts and their assessment, high-performance liquid chromatography (HPLC) and hemoglobin electrophoresis. Furthermore, innovative sensing technologies are currently under development, encompassing user-friendly, cost-effective and portable point-of-care devices that are capable of timely diagnosis at the genetic and molecular levels of these disorders. The review delves into a range of established and innovative strategies utilized in the detection of sickle cell disease, also underscoring the essential role played by diverse bio-sensing techniques in propelling the advancement of early diagnosis of SCD.
镰状细胞病在地中海、中东、撒哈拉以南非洲和亚洲的特定地区广泛存在，主要原因是血红蛋白S的异常产生。这种遗传性血液疾病源于β-珠蛋白基因的突变，β-珠蛋白是血红蛋白的关键组成部分，也是红细胞中含血红素的蛋白质。血红蛋白基因中的点突变可以以杂合或纯合模式遗传。这些突变破坏了蛋白质的正常结构，阻碍了其生理功能，并改变了细胞的形状，使其呈现出镰刀状外观。由此产生的镰状细胞会导致器官损伤、剧烈身体不适和贫血；在严重情况下，这种疾病可能是致命的。随着时间的推移，早期检测和有效的治疗方法有可能逐步降低相关的死亡率。为了以无与伦比的特异性诊断镰状细胞病及其携带者状态，已经开发了多种方法。最常见的方法包括血细胞分类计数及其评估、高效液相色谱（HPLC）和血红蛋白电泳。此外，创新的传感技术目前正在开发中，包括用户友好、经济高效且便携的即时检测设备，这些设备能够在这些疾病的基因和分子水平上进行及时诊断。这篇综述深入探讨了用于检测镰状细胞病的一系列既定和创新策略，同时也强调了各种生物传感技术在推动镰状细胞病早期诊断进展中所起的重要作用。
