Mulas Olga, Mola Brunella, Caocci Giovanni, La Nasa Giorgio
Hematology Unit, Businco Hospital, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
J Clin Med. 2022 Feb 9;11(4):907. doi: 10.3390/jcm11040907.
The success of transplant procedures in patients with beta-thalassemia major (β-thalassemia) goes hand-in-hand with improvements in disease knowledge, better supportive care, discoveries in immunogenetics, increase in stem cell sources, and enhancement of conditioning regimens. The aim of this scoping review was to report the evolution of conditioning regimes for β-thalassemia hematopoietic stem cell transplantation. We performed a systematic search for all relevant articles published before July 2021, using the following Medical Subject Headings: "bone marrow transplantation", "stem cell transplantation", "allogeneic", "thalassemia", "β-thalassemia", and "thalassemia major". The final analysis included 52 studies, published between 1988 and 2021, out of 3877 records. The most common conditioning regimen was a combination of busulfan and cyclophosphamide, with successive dose adjustments or remodulation based on patient characteristics. Pre-transplant treatments, reductions in cyclophosphamide dosage, or the adoption of novel agents such as treosulphan all improved overall survival and thalassemia-free survival in transplant-related mortality high-risk patients. Conditioning regimes were modulated for those without a suitable fully matched sibling or unrelated donor, with encouraging results. Hematopoietic stem cell transplantation with haploidentical donors is currently available to virtually all patients with β-thalassemia. However, disparities in outcome are still present around the world. In developing and limited-resource countries, where most diagnoses are focused, transplants are not always available. Therefore, more efforts are needed to close this treatment gap.
重型β地中海贫血（β-地中海贫血）患者移植手术的成功与疾病认知的改善、更好的支持性护理、免疫遗传学的发现、干细胞来源的增加以及预处理方案的改进密切相关。本范围综述的目的是报告β-地中海贫血造血干细胞移植预处理方案的演变。我们使用以下医学主题词对2021年7月之前发表的所有相关文章进行了系统检索：“骨髓移植”、“干细胞移植”、“同种异体”、“地中海贫血”、“β-地中海贫血”和“重型地中海贫血”。最终分析纳入了3877条记录中的52项研究，这些研究发表于1988年至2021年之间。最常见的预处理方案是白消安和环磷酰胺联合使用，并根据患者特征进行连续剂量调整或重新调整。移植前治疗、环磷酰胺剂量降低或采用诸如曲奥舒凡等新型药物均改善了移植相关死亡率高危患者的总生存期和无地中海贫血生存期。对于没有合适的全相合同胞或无关供者的患者，预处理方案进行了调整，结果令人鼓舞。目前，几乎所有β-地中海贫血患者都可获得单倍体相合供者的造血干细胞移植。然而，世界各地的治疗结果仍存在差异。在大多数诊断集中的发展中国家和资源有限的国家，移植并非总是可行。因此，需要做出更多努力来缩小这一治疗差距。
