Angelucci Emanuele, Matthes-Martin Susanne, Baronciani Donatella, Bernaudin Françoise, Bonanomi Sonia, Cappellini Maria Domenica, Dalle Jean-Hugues, Di Bartolomeo Paolo, de Heredia Cristina Díaz, Dickerhoff Roswitha, Giardini Claudio, Gluckman Eliane, Hussein Ayad Achmed, Kamani Naynesh, Minkov Milen, Locatelli Franco, Rocha Vanderson, Sedlacek Petr, Smiers Frans, Thuret Isabelle, Yaniv Isaac, Cavazzana Marina, Peters Christina
Haematologica. 2014 May;99(5):811-20. doi: 10.3324/haematol.2013.099747.
Thalassemia major and sickle cell disease are the two most widely disseminated hereditary hemoglobinopathies in the world. The outlook for affected individuals has improved in recent years due to advances in medical management in the prevention and treatment of complications. However, hematopoietic stem cell transplantation is still the only available curative option. The use of hematopoietic stem cell transplantation has been increasing, and outcomes today have substantially improved compared with the past three decades. Current experience world-wide is that more than 90% of patients now survive hematopoietic stem cell transplantation and disease-free survival is around 80%. However, only a few controlled trials have been reported, and decisions on patient selection for hematopoietic stem cell transplantation and transplant management remain principally dependent on data from retrospective analyses and on the clinical experience of the transplant centers. This consensus document from the European Blood and Marrow Transplantation Inborn Error Working Party and the Paediatric Diseases Working Party aims to report new data and provide consensus-based recommendations on indications for hematopoietic stem cell transplantation and transplant management.
重型地中海贫血和镰状细胞病是世界上传播最广泛的两种遗传性血红蛋白病。近年来，由于在预防和治疗并发症方面的医疗管理进展，患者的预后有所改善。然而，造血干细胞移植仍然是唯一可用的治愈选择。造血干细胞移植的使用一直在增加，与过去三十年相比，如今的治疗效果有了显著改善。目前全球的经验是，超过90%的患者在造血干细胞移植后存活，无病生存率约为80%。然而，仅报道了少数对照试验，关于造血干细胞移植患者选择和移植管理的决策主要仍依赖于回顾性分析数据和移植中心的临床经验。这份来自欧洲血液与骨髓移植先天性疾病工作组和儿科疾病工作组的共识文件旨在报告新数据，并就造血干细胞移植的适应症和移植管理提供基于共识的建议。
