Background: Oxidative stress is a pathophysiological state that arises due to an imbalance created between ROS generation and the antioxidant potential of the host cell. Transfusion- dependent beta-thalassemia major patients are at high risk of cellular and molecular damages induced by ROS mainly due to iron overload caused by repetitive blood transfusion. Objectives: To analyze oxidative stress status levels in β-thalassemia patients. To analyze the expression profile of enzymatic (NOS2, OGG1, HuR, SOD2) and non-enzymatic (VDR) redox regulators in β-thalassemia patients. To assess polymorphism in VDR (rs2228570) and NOS2 (rs944725) in β-thalassemia patients. To analyze serum vitamin D levels of β-TM patients compared to healthy individuals. Methods: The present case-control study aimed to identify Vitamin D levels in the serum of β-thalassemia patients and compared it with healthy subjects. The study further analyzed VDR FOKI (rs2228570) polymorphism through ARMS-PCR. Expression profiling of VDR, anti-oxidant enzyme (SOD2 and GPx), and their respective regulator (HuR and NrF2) transcripts was done by the 2–ΔΔCt method. Results: The study reports that there is no a significant difference between the Vitamin D levels among healthy and patients. VDR polymorphism analysis (rs2228570) demonstrates that although the C allele is prevalent in the study cohort, the frequency of the T allele is comparatively higher in β-thalassemia patients as compared to healthy subjects. Furthermore, patients express lower levels of anti-oxidant enzymes despite having increased oxidative stress. Conclusion: The study reports that β-thalassemia patients are at higher risk of cellular and molecular damages induced by oxidative stress and their associated pathologies inefficient enzymatic and non-enzymatic anti-oxidant defense systems.

中文翻译：

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β-地中海贫血患者的氧化应激：酶促和非酶促调节剂的作用


背景：氧化应激是一种病理生理状态，是由于宿主细胞的 ROS 生成和抗氧化潜力之间产生不平衡而产生的。输血依赖性β地中海贫血患者面临ROS引起的细胞和分子损伤的高风险，这主要是由于重复输血引起的铁超载。目的：分析β-地中海贫血患者的氧化应激状态水平。分析β-地中海贫血患者中酶促（NOS2、OGG1、HuR、SOD2）和非酶促（VDR）氧化还原调节因子的表达谱。评估 β-地中海贫血患者 VDR (rs2228570) 和 NOS2 (rs944725) 的多态性。分析 β-TM 患者与健康个体的血清维生素 D 水平。方法：本病例对照研究旨在确定 β-地中海贫血患者血清中的维生素 D 水平，并将其与健康受试者进行比较。该研究进一步通过ARMS-PCR分析了VDR FOKI（rs2228570）多态性。 VDR、抗氧化酶（SOD2 和 GPx）及其各自的调节因子（HuR 和 NrF2）转录物的表达谱通过 2–ΔΔCt 方法进行。结果：研究报告称，健康人和患者的维生素 D 水平没有显着差异。 VDR 多态性分析 (rs2228570) 表明，虽然 C 等位基因在研究队列中普遍存在，但与健康受试者相比，β 地中海贫血患者中 T 等位基因的频率相对较高。此外，尽管氧化应激增加，但患者的抗氧化酶水平较低。 结论：研究报告称，β-地中海贫血患者因氧化应激及其相关病理、酶促和非酶抗氧化防御系统效率低下而导致细胞和分子损伤的风险较高。