Makis Alexandros, Kattamis Antonis, Grammeniatis Vassilios, Sihlimiri Polyxeni, Kotsonis Haralambos, Iliadis Andreas, Siamopoulou Antigone, Chaliasos Nikolaos
Child Health Department, University of Ioannina Medical School, Ioannina, Greece.
J Pediatr Hematol Oncol. 2011 Jan;33(1):68-70. doi: 10.1097/MPH.0b013e3181e88677.
Diamond-Blackfan anemia (DBA) is a rare, congenital, pure red blood cell aplasia owing to gene defects affecting the function of ribosomal proteins, essential for erythroid maturation. Iron overload is a serious complication of chronic transfusions, which may lead to cardiac toxicity and endothelial damage. We report a case of pulmonary embolism, observed after viper bite in a transfusion-dependent child with DBA without known inherited thrombophilic factors. Embolic events are uncommon after viper bites, which they usually cause consumption coagulopathy, resulting in hypocoagulable state. DBA has not been earlier correlated with thrombotic episodes. In our patient, we suggest an iron overload-induced hypercoagulability state, which in the presence of a procoagulant substance lead to the development of a thromboembolic event.
钻石黑范贫血(DBA)是一种罕见的先天性纯红细胞再生障碍性贫血,由于基因缺陷影响核糖体蛋白的功能,而核糖体蛋白对红系成熟至关重要。铁过载是慢性输血的严重并发症,可能导致心脏毒性和内皮损伤。我们报告一例在输血依赖型DBA患儿被蝰蛇咬伤后发生肺栓塞的病例,该患儿无已知的遗传性血栓形成倾向因素。蝰蛇咬伤后栓塞事件并不常见,通常会导致消耗性凝血病,从而导致低凝状态。DBA此前未与血栓形成事件相关联。在我们的患者中,我们认为是铁过载诱导的高凝状态,在存在促凝物质的情况下导致了血栓栓塞事件的发生。