Li Yuan, Ye Lei, Zhou Kang, Fan Hui-Hui, Li Jian-Ping, Xiong You-Zhen, Yang Yang, Peng Guang-Xin, Yang Wen-Rui, Zhao Xin, Jing Li-Ping, Zhang Li, Zhang Feng-Kui
Anemia Therapeutic Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Tianjin 300020, China.
World J Clin Cases. 2024 Jul 6;12(19):3978-3984. doi: 10.12998/wjcc.v12.i19.3978.
Congenital sideroblastic anemia (CSA) is a rare and heterogeneous group of genetic disorders. Conventional treatment include pyridoxine (vitamin B6) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), and can alleviate anemia in the majority of cases. Nevertheless, some CSA cases remain unresponsive to pyridoxine or are unable to undergo allo-HSCT. Novel management approaches is necessary to be developed. To explore the response of luspatercept in treating congenital sideroblastic anemia.
We share our experience in luspatercept in a 4-year-old male patient with CSA. Luspatercept was administered subcutaneously at doses of 1.0 mg/kg/dose to 1.25 mg/kg/dose every 3 wk, three consecutive doses, evaluating the hematological response. Luspatercept leading to a significant improvement in the patient's anemia. The median hemoglobin during the overall treatment with three doses of luspatercept was 90 (75-101) g/L, the median absolute reticulocyte count was 0.0593 (0.0277-0.1030) × 10/L, the median serum ferritin was 304.3 (234.4-399) ng/mL, and the median lifespan of mature red blood cells was 80 (57-92) days. Notably, no adverse reactions, such as headaches, dizziness, vomiting, joint pain, or back pain, were observed during the treatment period.
We believe that luspatercept might emerge as a viable therapeutic option for the maintenance treatment of CSA or as a bridging treatment option before hematopoietic stem cell transplantation.
先天性铁粒幼细胞贫血（CSA）是一组罕见的、具有异质性的遗传性疾病。传统治疗方法包括使用吡哆醇（维生素B6）和异基因造血干细胞移植（allo-HSCT），在大多数情况下可缓解贫血。然而，一些CSA病例对吡哆醇无反应或无法进行allo-HSCT。因此，有必要开发新的治疗方法。本研究旨在探讨罗特西普治疗先天性铁粒幼细胞贫血的疗效。
我们分享了使用罗特西普治疗一名4岁男性CSA患者的经验。罗特西普通过皮下注射给药，剂量为1.0mg/kg/剂量至1.25mg/kg/剂量，每3周一次，连续给药三剂，并评估血液学反应。罗特西普使患者贫血状况得到显著改善。在使用三剂罗特西普进行整体治疗期间，血红蛋白中位数为90（75-101）g/L，绝对网织红细胞计数中位数为0.0593（0.0277-0.1030）×10/L，血清铁蛋白中位数为304.3（234.4-399）ng/mL，成熟红细胞寿命中位数为80（57-92）天。值得注意的是，治疗期间未观察到头痛、头晕、呕吐、关节疼痛或背痛等不良反应。
我们认为，罗特西普可能成为CSA维持治疗的一种可行治疗选择，或作为造血干细胞移植前的桥接治疗选择。
