Objective: To explore the plasma metabolomic characteristics of children with transfusion-dependent thalassemia (TDT), and reveal the changes of metabolic pattern in children with TDT.
Methods: 23 children with TDT who received regular blood transfusion in Ganzhou Women and Children's Health Care Hospital in 2021 were selected, and 11 healthy children who underwent physical examination during the same period were selected as the control group. The routine indexes between children with TDT and the control group were compared, and then the metabolic composition of plasma samples from children with TDT and the control group was detected by liquid chromatography-mass spectrometry. An OPLS-DA model was established to perform differential analysis on the detected metabolites, and the differential metabolic pathways between the two groups were analyzed based on the differential metabolites.
Results: The results of routine testing showed that the indexes of ferritin, bilirubin, total bile acid, glucose and triglycerides in children with TDT were significantly higher than those in healthy controls, while hemoglobin and total cholesterol were significantly lower (all P <0.05). However there was no significant difference in lactate dehydrogenase between the two groups (P >0.05). Compared with the control group, 190 differential metabolites (VIP>1) were identified in TDT children. Among them, 168 compounds such as arginine, proline and glycocholic acid were significantly increased, while the other 22 compounds such as myristic acid, eleostearic acid, palmitic acid and linoleic acid were significantly decreased. The metabolic pathway analysis showed that the metabolic impact of TDT on children mainly focused on the upregulation of amino acid metabolism and downregulation of lipid metabolism.
Conclusion: The amino acid and lipid metabolism in children with TDT were significantly changed compared with the healthy control group. This finding is helpful to optimize the treatment choice for children with TDT, and provides a new idea for clinical treatment.
题目: 输血依赖性地中海贫血患儿血浆代谢谱分析.
目的: 探讨输血依赖性地中海贫血（TDT）患儿血浆代谢组学特征，揭示TDT患儿代谢模式的改变。.
方法: 选取2021年在赣州市妇幼保健院定期输血的23例TDT患儿，同时选取同期体检的健康儿童11例作为对照组。比较TDT患儿与对照组常规指标的差异，随后采用液相色谱-质谱联用技术检测TDT患儿及对照组血浆样本的代谢物组成。建立OPLS-DA模型，对检测出的代谢物进行差异性分析，通过差异代谢物进而分析两组间存在的差异代谢通路。.
结果: 常规指标检验结果显示，TDT患儿较健康对照儿童铁蛋白、胆红素、总胆汁酸、葡萄糖、甘油三酯等指标均显著升高，血红蛋白、总胆固醇均显著降低（均 P < 0.05）；而乳酸脱氢酶差异无统计学意义（P >0.05）。与对照组相比，在TDT患儿中共鉴定出190种差异代谢物（VIP>1）。其中，有168种化合物显著升高，包括精氨酸、脯氨酸及甘胆酸 等；有22种化合物显著下降，包括肉豆蔻酸、桐酸、棕榈酸和亚油酸等。代谢通路分析结果显示，TDT对患儿的代谢影响主要集中于氨基酸代谢的上调和脂类代谢下调。.
结论: 与健康对照组相比，TDT患儿氨基酸代谢和脂类代谢显著改变。这一发现有助于优化TDT患儿的治疗选择，为临床治疗提供了新的思路。.
Keywords: transfusion-dependent thalassemia; children; metabolism.