Wu Kang-Hsi, Chang Jan-Gowth, Ho Yung-Jen, Wu Shu-Fen, Peng Ching-Tien
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
Hemoglobin. 2006;30(2):251-6. doi: 10.1080/03630260600642575.
Patients with beta-thalassemia (thal) major are subject to peroxidative tissue injury by iron overload. Glutathione S-transferases work as antioxidants, and their activity is determined genetically. In this study, we used multiplex polymerase chain reaction (m-PCR) to analyze polymorphisms of two endogenous antioxidant agents, glutathione S-transferase M1 (GSTM1) and glutathione S-transferase T1 (GSTT1), and to determine their roles in 41 patients with beta-thal major. Our results showed that the GSTM1 and GSTT1 null genotypes were not associated with any incidence of endocrine dysfunction (including diabetes mellitus, hypogonadism, hypothyroidism, and growth hormone deficiency), liver function, or impaired left ventricular ejection fraction (LVEF). The GSTM1 null genotype, but not the GSTT1 null genotype, was associated with a decreased signal intensity ratio on cardiac magnetic resonance imaging (MRI). Our results suggest that genetic variations of the GSTM1 enzyme are associated with cardiac iron deposition in patients with beta-thal major.
重型β地中海贫血（β-地贫）患者会因铁过载而遭受过氧化组织损伤。谷胱甘肽S-转移酶作为抗氧化剂发挥作用，其活性由基因决定。在本研究中，我们使用多重聚合酶链反应（m-PCR）分析两种内源性抗氧化剂谷胱甘肽S-转移酶M1（GSTM1）和谷胱甘肽S-转移酶T1（GSTT1）的多态性，并确定它们在41例重型β-地贫患者中的作用。我们的结果表明，GSTM1和GSTT1缺失基因型与任何内分泌功能障碍（包括糖尿病、性腺功能减退、甲状腺功能减退和生长激素缺乏）、肝功能或左心室射血分数（LVEF）受损的发生率均无关。GSTM1缺失基因型而非GSTT1缺失基因型与心脏磁共振成像（MRI）上信号强度比降低有关。我们的结果表明，GSTM1酶的基因变异与重型β-地贫患者的心脏铁沉积有关。
