Transforming the treatment of Alpha-Thalassemia: a single-center retrospective study on hematopoietic stem cell transplantation in transfusion-dependent pediatric patients

改变α-地中海贫血的治疗:一项关于输血依赖型儿科患者造血干细胞移植的单中心回顾性研究

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Abstract

Hematopoietic stem cell transplantation (HSCT) is the only definitive cure for transfusion-dependent α-thalassemia, though comprehensive studies on its effectiveness are limited. In this retrospective study, we analyzed the clinical characteristics of 21 pediatric patients with transfusion-dependent α-thalassemia who underwent HSCT, all of whom received a standardized conditioning regimen consisting of busulfan, cyclophosphamide, fludarabine, and anti-thymocyte globulin. After a median follow-up of 25 months (range: 7–92 months), the two-year overall survival (OS) and event-free survival (EFS) rates were both 90.2% (95% CI: 66.2–97.4%), and the two-year graft-versus-host disease-free, relapse-free survival (GRFS) rate was 82.3% (95% CI: 52.6–94.3%). The transplant-related mortality rate at two years was 5.0% (95% CI: 0.7–30.0%), with no cases of graft failure observed. Among the 19 surviving patients, hemoglobin levels significantly increased compared to pre-transplant levels (p < 0.05), and all became transfusion-independent. Hematopoietic stem cell transplantation is a curative treatment for α-thalassemia. For patients with transfusion-dependent α-thalassemia, HSCT should be performed as early as possible at an experienced transplant center when a suitable donor is available.

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