Shenoy Shalini, Angelucci Emanuele, Arnold Staci D, Baker K Scott, Bhatia Monica, Bresters Dorine, Dietz Andrew C, De La Fuente Josu, Duncan Christine, Gaziev Javid, King Allison A, Pulsipher Michael A, Smith Angela R, Walters Mark C
Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.
Department of Hematology, Ospedale Oncologico di Riferimento Regionale "Armando Businco", Cagliari, Italy; Department of Hematology, IRCCS Azienda Ospedaliera Universitaria San Martino-IST Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy.
Biol Blood Marrow Transplant. 2017 Apr;23(4):552-561. doi: 10.1016/j.bbmt.2017.01.009. Epub 2017 Jan 5.
Sustained donor engraftment after allogeneic hematopoietic cell transplantation (HCT) converts to healthy donor hemoglobin synthesis and halts disease symptoms in patients with sickle cell disease and thalassemia major. A disease-free survival probability that exceeds 90% has been reported when HCT using an HLA-matched sibling donor is performed in young patients with low-risk disease or treatment-related risk factors. Alternate donor HCT and HCT in adults is performed infrequently because of a higher risk profile. Transplant-specific risks include conditioning regimen-related toxicity, graft-versus-host disease, graft rejection with marrow aplasia or disease recurrence, and infections associated with immunosuppression and delayed immune reconstitution. The magnitude of risk depends on patient age, clinical status of the underlying disease (eg, organ injury from vasculopathy and iron overload), donor source, and intensity of the conditioning regimen. These risks are commonly monitored and reported in the short term. Documenting very late outcomes is important, but these data are rarely reported because of challenges imposed by patient drop-out and insufficient resources. This report summarizes long-term follow-up results after HCT for hemoglobin disorders, identifies gaps in knowledge, and discusses opportunities for future investigations. This consensus summary will be followed by a second article detailing comprehensive long-term follow-up recommendations to aid in maintaining health in these individuals and identifying late complication risks that could facilitate interventions to improve outcomes.
异基因造血细胞移植（HCT）后供体的持续植入可使镰状细胞病和重型地中海贫血患者转变为健康的供体血红蛋白合成，并缓解疾病症状。据报道，对于患有低风险疾病或与治疗相关风险因素的年轻患者，使用HLA匹配的同胞供体进行HCT时，无病生存概率超过90%。由于风险较高，成人的替代供体HCT和HCT很少进行。移植特异性风险包括预处理方案相关毒性、移植物抗宿主病、伴有骨髓再生障碍或疾病复发的移植物排斥反应，以及与免疫抑制和免疫重建延迟相关的感染。风险程度取决于患者年龄、基础疾病的临床状态（如血管病变和铁过载导致的器官损伤）、供体来源以及预处理方案的强度。这些风险通常在短期内进行监测和报告。记录非常晚期的结果很重要，但由于患者失访和资源不足带来的挑战，这些数据很少被报告。本报告总结了血红蛋白疾病HCT后的长期随访结果，确定了知识空白，并讨论了未来研究的机会。在这份共识总结之后，将有第二篇文章详细介绍全面的长期随访建议，以帮助维持这些个体的健康，并识别可能有助于采取干预措施改善结局的晚期并发症风险。
