Department of Internal Medicine, University of Health Sciences, Bursa Sehir Training & Research Hospital, Bursa, Turkey.
Department of Hematology, University of Health Sciences, Bursa Sehir Training & Research Hospital, Bursa, Turkey.
Hemoglobin. 2024 Jul;48(4):292-300. doi: 10.1080/03630269.2024.2412111. Epub 2024 Oct 15.
Transfusion-dependent thalassemia (TDT) is an autosomal recessive disorder characterized by defective hemoglobin synthesis, leading to severe complications such as iron overload and multi-organ dysfunction. This study aims to elucidate the distinctive clinical and biochemical profiles of TDT patients compared to healthy controls, with an emphasis on cardiovascular risk assessment using novel markers such as the Plasma Atherogenic Index (PAI) and Triglyceride-Glucose (TyG) index.
This cross-sectional study included 32 TDT patients and 36 healthy controls, matched for age and gender. Comprehensive demographic, laboratory, and imaging data were collected and analyzed. TDT patients were further stratified based on cardiac involvement and ferritin levels. Key assessments included hemoglobin levels, liver enzymes, lipid profiles, and cardiac imaging. The PAI and TyG index were calculated to evaluate cardiovascular risks. Statistical analyses were performed using SPSS 27.0, employing Student's -test, Mann-Whitney test, and Pearson chi-square test as appropriate.
No significant differences in basic demographic parameters were observed between groups; however, TDT patients exhibited significant clinical and laboratory differences. Notably, these patients had lower hemoglobin levels, higher platelet counts, elevated liver enzymes (ALT and AST), and markedly increased ferritin levels. Lipid profiles were significantly altered, with lower levels of total cholesterol, HDL, and LDL but elevated triglycerides. Importantly, the PAI was significantly higher in TDT patients, suggesting an increased atherosclerotic risk. Subgroup analysis revealed that patients with cardiac involvement had worse metabolic profiles, higher TyG indices, and prolonged QT intervals, indicating heightened cardiovascular risk. As the iron burden increases, the TyG index and PAI may lose their sensitivity in distinguishing between varying levels of iron overload, suggesting that their effectiveness plateaus beyond a certain threshold of iron accumulation.
TDT patients show significant hematological and metabolic deviations, including elevated cardiovascular risk markers like PAI and TyG index. As iron burden increases, these markers lose discriminative power, and cardiac involvement escalates rapidly once a critical iron threshold is surpassed, as supported by studies showing a non-linear relationship between iron load and cardiac complications. Comprehensive cardiovascular risk assessment and tailored management are essential for these patients. Future studies should focus on tracking cardiovascular risk progression and the effects of targeted interventions.
输血依赖型地中海贫血（TDT）是一种常染色体隐性遗传病，其特征是血红蛋白合成缺陷，导致严重并发症，如铁过载和多器官功能障碍。本研究旨在阐明 TDT 患者与健康对照组之间的独特临床和生化特征，重点是使用新型标志物（如血浆致动脉粥样硬化指数（PAI）和甘油三酯-葡萄糖（TyG）指数）评估心血管风险。
这是一项横断面研究，纳入了 32 名 TDT 患者和 36 名健康对照者，按年龄和性别进行匹配。收集并分析了全面的人口统计学、实验室和影像学数据。根据心脏受累和铁蛋白水平对 TDT 患者进行进一步分层。主要评估包括血红蛋白水平、肝酶、血脂谱和心脏成像。计算 PAI 和 TyG 指数以评估心血管风险。使用 SPSS 27.0 进行统计分析，适当采用学生 t 检验、Mann-Whitney 检验和 Pearson 卡方检验。
两组基本人口统计学参数无显著差异；然而，TDT 患者表现出显著的临床和实验室差异。值得注意的是，这些患者的血红蛋白水平较低，血小板计数较高，肝酶（ALT 和 AST）升高，铁蛋白水平显著升高。血脂谱明显改变，总胆固醇、HDL 和 LDL 水平降低，而甘油三酯升高。重要的是，TDT 患者的 PAI 显著升高，提示动脉粥样硬化风险增加。亚组分析显示，有心脏受累的患者代谢谱更差，TyG 指数更高，QT 间期延长，表明心血管风险更高。随着铁负荷的增加，TyG 指数和 PAI 在区分不同程度的铁过载方面可能失去敏感性，表明它们的有效性在达到一定的铁积累阈值后趋于平稳。
TDT 患者表现出明显的血液学和代谢偏差，包括升高的心血管风险标志物，如 PAI 和 TyG 指数。随着铁负荷的增加，这些标志物失去区分能力，一旦超过临界铁阈值，心脏受累迅速加剧，这得到了研究表明铁负荷与心脏并发症之间存在非线性关系的支持。对这些患者进行全面的心血管风险评估和个体化管理至关重要。未来的研究应侧重于跟踪心血管风险的进展和靶向干预的效果。
