Department of Pediatrics, Jordan University of Science & Technology, Irbid, Jordan.
Mutat Res. 2012 May 15;744(2):167-71. doi: 10.1016/j.mrgentox.2012.02.010. Epub 2012 Mar 5.
Thalassemia is an inherited blood disorder that affects both genders and results in reduced synthesis of hemoglobin, and thus causing anemia. Previous studies have shown that the severe form of this disease, thalassemia major, is associated with genotoxicity. This includes increases in the level of sister chromatid exchange (SCEs), chromosomal aberrations (CAs) and micronuclei. In this study, we assessed genotoxicity in the lymphocytes of thalassemia minor subjects using sister chromatid exchange (SCE) and chromosomal aberration (CA) assays. In addition, we investigated the level of oxidative DNA damage by measuring 8-hydroxy-2'-deoxyguanosine (8OHdG) biomarker in urine samples. Eighteen thalassemia minor subjects and eighteen matched normal healthy controls were volunteered in the study. In addition, seven thalassemia major patients were recruited as positive controls. The results showed increases in the frequency of SCEs (P<0.05) in thalassemia minor compared to healthy controls. However, no difference in CAs frequency was detected between thalassemia minor and controls (P>0.05). Both SECs and CAs in thalassemia major patients were significantly higher compared to other groups (P<0.05). Regarding urine 8OHdG levels, the result showed a slight increase in thalassemia minor compared to healthy controls but the difference was not significant (P>0.05). In conclusion, our results showed that thalassemia minor is associated with genotoxicity to blood lymphocytes as indicated by SCEs assay.
地中海贫血是一种遗传性血液病，影响男女两性，导致血红蛋白合成减少，从而引起贫血。先前的研究表明，这种疾病的严重形式，即重型地中海贫血，与遗传毒性有关。这包括姐妹染色单体交换（SCE）水平升高、染色体畸变（CA）和微核。在这项研究中，我们使用姐妹染色单体交换（SCE）和染色体畸变（CA）测定法评估了地中海贫血患者的淋巴细胞遗传毒性。此外，我们通过测量尿液样本中的 8-羟基-2'-脱氧鸟苷（8OHdG）生物标志物来研究氧化 DNA 损伤水平。18 名地中海贫血患者和 18 名匹配的健康对照组志愿者参加了这项研究。此外，还招募了 7 名重型地中海贫血患者作为阳性对照组。结果表明，与健康对照组相比，地中海贫血患者的 SCE 频率增加（P<0.05）。然而，地中海贫血患者和对照组之间的 CA 频率没有差异（P>0.05）。与其他组相比，重型地中海贫血患者的 SEC 和 CA 均显著升高（P<0.05）。关于尿液 8OHdG 水平，结果显示地中海贫血患者与健康对照组相比略有升高，但差异无统计学意义（P>0.05）。总之，我们的结果表明，地中海贫血患者的血液淋巴细胞存在遗传毒性，这表明 SCE 测定法与地中海贫血有关。
