Khurana Kashish, Mahajan Satish, Acharya Sourya, Kumar Sunil, Toshniwal Saket
Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2024 Mar 18;16(3):e56389. doi: 10.7759/cureus.56389. eCollection 2024 Mar.
It is known that an inherited blood condition called sickle cell disease (SCD) is a result of one gene. A number of blood and urine biomarkers have been determined in association with lab and clinical history for SCD patients. SCD has numerous interacting pathways associated with it, which have been identified by biomarkers. These mechanisms consist of some examples, such as endothelial vasodilation response, hypercoagulability, hemolysis, inflammation, oxidative stress, vascular dysfunction, and reperfusion injury among others. To effectively manage SCD, a comprehensive panel of validated blood and urine biomarkers must be established. Despite its monogenic inheritance, the complex nature of the SCD phenotype has impeded progress in its treatment. However, significant strides have been made in clinical biotechnology, paving the way for potential breakthroughs. In SCD, a panel of verified blood and urine biomarkers must be established, however. Despite monogenic inheritance, the great complexity of the SCD phenotype has hindered progress in its management. With few exceptions, clinical biomarkers of illness severity have been found through epidemiological investigations; nevertheless, systematic integration of these biomarkers into clinical treatment algorithms has not occurred. Furthermore, sickle cell crisis, the primary acute consequence of SCD, has been difficult to diagnose with the biomarkers now in use. Inadequate care and a lack of appropriate outcome measures for clinical research are the consequences of these diagnostic constraints. A new chapter in SCD customized treatment has begun with recent advancements in molecular and imaging diagnostics. Strategies in precision medicine are especially relevant now that molecular therapies are within reach. The significance of biochemical indicators linked to clinical manifestation and sub-phenotype identification in SCD is reviewed in this research.
众所周知，一种名为镰状细胞病（SCD）的遗传性血液疾病是由一个基因导致的。已经确定了许多与SCD患者的实验室检查和临床病史相关的血液和尿液生物标志物。SCD有许多与之相关的相互作用途径，这些途径已通过生物标志物得以识别。这些机制包括一些例子，如内皮血管舒张反应、高凝状态、溶血、炎症、氧化应激、血管功能障碍和再灌注损伤等。为了有效管理SCD，必须建立一组经过验证的全面的血液和尿液生物标志物。尽管SCD是单基因遗传，但其表型的复杂性阻碍了其治疗进展。然而，临床生物技术已经取得了重大进展，为潜在的突破铺平了道路。然而，在SCD中，必须建立一组经过验证的血液和尿液生物标志物。尽管是单基因遗传，但SCD表型的极大复杂性阻碍了其管理方面的进展。除了少数例外情况，疾病严重程度的临床生物标志物是通过流行病学调查发现的；然而，这些生物标志物尚未系统地整合到临床治疗算法中。此外，镰状细胞危象作为SCD的主要急性后果，很难用目前使用的生物标志物进行诊断。这些诊断限制导致了护理不足以及临床研究缺乏适当的结局指标。随着分子和成像诊断技术的最新进展，SCD个性化治疗的新篇章已经开启。鉴于分子疗法已触手可及,精准医学策略尤其具有现实意义。本研究综述了与SCD临床表现及亚表型识别相关的生化指标的重要性。
