Cario H, Wegener M, Debatin K-M, Kohne E
Department of Pediatrics, University of Ulm, University Children's Hospital, Prittwitzstr. 43, 89070 Ulm, Germany.
Ann Hematol. 2002 Aug;81(8):478-82. doi: 10.1007/s00277-002-0501-4. Epub 2002 Aug 15.
Excessive ineffective erythropoiesis in thalassemia intermedia may cause paravertebral pseudotumors of extramedullary hematopoiesis. Due to the proximity to the spinal canal, these paravertebral masses carry the risk of severe neurological damage. Treatment strategies include hypertransfusion, radiotherapy, and laminectomy. Hydroxyurea, stimulating fetal hemoglobin synthesis, may represent an alternative therapeutic approach. We report on a 26-year-old patient suffering from thalassemia intermedia with progressive anemia symptoms and presenting multiple intrathoracic paravertebral pseudotumors of extramedullary hematopoiesis. Hypertransfusion therapy and splenectomy were followed by regular transfusion (baseline hemoglobin 10 g/dl) and chelation with desferrioxamine. With this treatment, clinical symptoms disappeared, paravertebral hematopoietic masses did not progress, but severe hemosiderosis developed within a few years. Hydroxyurea therapy was initiated to increase the efficacy of erythropoiesis, thereby reducing the required transfusion volume but suppressing concomitantly further expansion of extramedullary hematopoiesis, and finally leading to a reduction of transfusional iron load. Treatment was started with 4 mg/kg per day and stepwise increased to 12.5 mg/kg per day. The fetal hemoglobin concentration increased from 4.5 to 5.5 g/dl after 1 year and to 9.9 g/dl after 2 years of treatment. The yearly transfusion volume was halved during the 1st year of treatment. At present, after 26 months of treatment, the patient has been transfusion-independent for 10 months. Serum ferritin levels decreased from 2844 to 1335 ng/ml. Size and shape of paravertebral hematopoietic pseudotumors remained stable. No side effects of hydroxyurea have been observed. In thalassemia intermedia patients with extramedullary hematopoiesis, hydroxyurea may lead to independence from regular transfusion therapy without further expansion of ectopic hematopoietic tissue.
中间型地中海贫血中过度无效的红细胞生成可能导致椎旁髓外造血假性肿瘤。由于靠近椎管，这些椎旁肿块存在严重神经损伤的风险。治疗策略包括强化输血、放疗和椎板切除术。刺激胎儿血红蛋白合成的羟基脲可能是一种替代治疗方法。我们报告了一名26岁的中间型地中海贫血患者，其有进行性贫血症状，并出现多个胸内椎旁髓外造血假性肿瘤。强化输血治疗和脾切除术后，患者接受定期输血（基线血红蛋白10 g/dl）并使用去铁胺进行螯合治疗。通过这种治疗，临床症状消失，椎旁造血肿块没有进展，但几年内出现了严重的铁过载。开始使用羟基脲治疗以提高红细胞生成的效率，从而减少所需的输血量，但同时抑制髓外造血的进一步扩展，最终导致输血铁负荷的降低。治疗开始时剂量为每天4 mg/kg，逐步增加至每天12.5 mg/kg。治疗1年后胎儿血红蛋白浓度从4.5 g/dl增加到5.5 g/dl，治疗2年后增加到9.9 g/dl。治疗第1年每年的输血量减半。目前，经过26个月的治疗，患者已10个月未输血。血清铁蛋白水平从2844 ng/ml降至1335 ng/ml。椎旁造血假性肿瘤的大小和形状保持稳定。未观察到羟基脲的副作用。在有髓外造血的中间型地中海贫血患者中，羟基脲可能使患者无需定期输血治疗，且异位造血组织不会进一步扩展。
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