Allogeneic/Matched Related Transplantation for β-Thalassemia and Sickle Cell Anemia
Allogeneic/Matched Related Transplantation for β-Thalassemia and Sickle Cell Anemia
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DOI：
10.1007/978-1-4939-7299-9_4
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发表时间：
2017-01-01
期刊：
影响因子：
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通讯作者：
Thuret, Isabelle
中科院分区：
文献类型：
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作者：
Bernaudin, Francoise;Pondarre, Corinne;Thuret, Isabelle
同种异体造血干细胞移植（HSCT）可以治疗地中海贫血和镰状细胞性贫血（SCA）等单基因疾病。这些非恶性疾病通常有严重的溶血性贫血和高增殖骨髓，需要经常输血。排斥反应的风险很高，移植物抗宿主病是不可取的。在这些疾病的管理方面取得了重要进展，包括针对这两种疾病的血液制品白细胞消耗和螯合治疗，以及针对SCA的红细胞摘取和羟基脲治疗。然而，发病率和生活质量仍然令人担忧。HSCT的结果也有显著改善，使用抗胸腺细胞球蛋白（anti-thymocyte globulin， ATG）减少了排斥反应，也降低了慢性移植物抗宿主病的风险。目前的数据显示，在患有血红蛋白病的儿童和一个基因相同的供体中，骨髓清除条件治疗的机会超过90%。无论细胞来源是脐带血还是骨髓，结果都是相似的。由于与条件相关的不孕的风险，卵巢和/或睾丸冷冻保存应该讨论。非清髓调节方案也已成功开发成人SCA和器官功能障碍，使治愈成为可能。这些令人鼓舞的结果应该鼓励在血红蛋白病家庭早期进行HLA分型，并系统地建议对没有基因相同供体的兄弟姐妹脐带血冷冻保存。
Allogeneic hematopoietic stem cell transplantation (HSCT) can cure single gene disorders such as thalassemia and sickle cell anemia (SCA). These non-malignant diseases have in common severe hemolytic anemia and high proliferative bone marrow, requiring frequent transfusions. The risk of rejection is high and graft-vs-host disease is not desirable. Important progress has been made in the management of these diseases, including leukocyte depletion of blood products, and chelation therapy, for both diseases, and erythrocytapheresis and hydroxycarbamide for SCA. However, morbidity and quality of life are still of concern. Results have also significantly improved for HSCT, with the reduction of rejection by using anti-thymocyte globulin (ATG), which also decreases the risk of chronic graft-vs-host disease. Current data show a more than 90% chance of cure with myeloablative conditioning in children with hemoglobinopathy and a geno-identical donor. Results are similar whether the cell source is cord blood or bone marrow. Because of the risk of conditioning-related infertility, ovarian and/or testis cryopreservation should be discussed. Non-myeloablative conditioning regimens have also been successfully developed in adults with SCA and organ dysfunction, making cure possible. These encouraging results should incite to perform HLA typing early in families with hemoglobinopathies, and to systematically propose sibling cord blood cryopreservation for those without geno-identical donor.