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Metallomic profiling to evaluate the response to drug treatment: hydroxyurea as a case study in β-thalassemia patients

机译:冶金分析评估对药物治疗的反应:羟基尿素在β地中海贫血患者中的案例研究

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β-Thalassemia is the most common genetic disorder and results in the defective synthesis of β-globin chain, followed by chronic anemia. Hydroxyurea (HU) is among the drugs that effectively enhance fetal hemoglobin (HbF) levels in β-thalassemia patients, hence reducing blood transfusion requirements and transfusion-related complications. The current study focuses on the serum metallomic profiling of 40 β-thalassemia patients before and after treatment with hydroxyurea. Forty-five healthy individuals served as controls. For the profiling, 19 elements were analyzed by inductively coupled plasma-mass spectrometry (ICP-MS). The results showed significant differences in 15 elements at a probability level of 0.05 with a fold-change >3 between the HU-treated and untreated groups. Of these elements, 8 showed the same levels in thalassemic patients after administration of HU as in healthy controls. These results suggest that treatment with HU not only improves Hb levels in β-thalassemia patients but also reduces biometal dysregulations, thus improving the management of β-thalassemia.
机译:β-地中海贫血是最常见的遗传性疾病,导致β-珠蛋白链合成缺陷,继而发生慢性贫血。羟基尿素(HU)是有效增强β地中海贫血患者胎儿血红蛋白(HbF)水平,从而减少输血需求和输血相关并发症的药物之一。目前的研究集中在40名β-地中海贫血患者接受羟基脲治疗前后的血清金属素谱分析。 45名健康个体作为对照。对于分析,通过电感耦合等离子体质谱法(ICP-MS)分析了19种元素。结果显示,HU治疗组和未治疗组之间的15种元素存在显着差异,概率水平为0.05,倍数变化> 3。在这些元素中,有8个在使用HU的地中海贫血患者中显示的水平与健康对照组中的水平相同。这些结果表明,用HU治疗不仅可以改善β地中海贫血患者的血红蛋白水平,而且可以减少生物金属失调,从而改善β地中海贫血的管理。

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