Ehsani Mohammad Ali, Hedayati-Asl Amir Abbas, Bagheri Alireza, Zeinali Syrus, Rashidi Armin
Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Pediatr Hematol Oncol. 2009 Nov;26(8):560-5. doi: 10.3109/08880010903271671.
Hydroxyurea (HU) may improve the symptoms in thalassemia patients by increasing gamma-globin chain expression. However, the efficacy of HU in beta-thalassemia intermedia (TI) is unclear.
The authors treated 16 transfusion-independent TI patients (8 males) aged 10.7 +/- 5.0 years with HU, 20 mg/kg/day 4 days per week, for 6 months. Hemoglobin (Hb) and HbF levels were measured prior to treatment, during the treatment period (monthly), and following the completion of treatment. Mutations in the beta-globin gene as well as the XmnI polymorphism were determined.
Treatment was well tolerated. There was a significant increase in both Hb and HbF (p < .001), and the increments were strongly correlated (r = .94; p < .001). XmnI polymorphism was not correlated with hematological response. Hb (p = .026) and HbF (p = .046) showed a more significant rise in patients with a Fr8/9 allele than those with one or two IVS-II-1 alleles.
HU therapy was associated with a significant hematological response in our TI patients. The Fr8/9 mutation, but not the XmnI polymorphism, was a predictor of good hematological response. Studies with larger sample sizes are needed to confirm the results obtained in this study.
羟基脲（HU）可通过增加γ-珠蛋白链表达来改善地中海贫血患者的症状。然而，HU治疗中间型β地中海贫血（TI）的疗效尚不清楚。
作者对16例年龄为10.7±5.0岁的非输血依赖型TI患者（8例男性）采用HU治疗，剂量为20mg/kg/天，每周用药4天，共治疗6个月。在治疗前、治疗期间（每月）以及治疗结束后测量血红蛋白（Hb）和HbF水平。检测β-珠蛋白基因突变以及XmnI多态性。
治疗耐受性良好。Hb和HbF均显著升高（p<.001），且升高幅度呈强相关（r=.94；p<.001）。XmnI多态性与血液学反应无关。与携带一个或两个IVS-II-1等位基因的患者相比，携带Fr8/9等位基因的患者Hb（p=.026）和HbF（p=.046）升高更为显著。
HU治疗使我们的TI患者出现显著的血液学反应。Fr8/9突变而非XmnI多态性是血液学良好反应的预测指标。需要开展更大样本量的研究来证实本研究结果。
