鲁帕特罗治疗先天性红细胞性贫血：两例报告

IF 3.2 4区医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL

Current Research in Translational Medicine Pub Date : 2024-01-12 DOI:10.1016/j.retram.2024.103438

Yuanyuan Shao, Li He, Shaoxue Ding, Rong Fu

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引用次数: 0

摘要

先天性红细胞性贫血（CSA）是一组由不同基因突变引起的疾病，会导致铁利用率低和红细胞生成障碍。目前的治疗方法有限，一些患者对维生素 B6 治疗无效。Luspatercept是一种新型红细胞生成成熟剂，已被批准用于治疗伴有无效红细胞生成的成人β地中海贫血和骨髓增生异常综合征（MDS-RS）。在此，我们报告了两名因 ALAS2 和 SLC25A38 基因突变而导致 CSA 的患者，他们在接受维生素 B6 和铁螯合剂治疗一段时间后出现不反应，但在联合使用鲁帕特罗后实现了输血独立和脾脏明显缩小。

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Luspatercept for the treatment of congenital sideroblastic anemia: Two case reports

Congenital sideroblastic anemia (CSA) is a group of disorders caused by different genetic mutations that result in low iron utilization and ineffective erythropoiesis. Current treatments are limited, and some patients do not respond to vitamin B6 therapy. Luspatercept is a novel erythropoietic maturation agent approved for adult β-thalassemia and Myelodysplastic syndromes with ring sideroblasts (MDS-RS) associated with ineffective erythropoiesis. Here we report 2 patients with CSA due to mutations in ALAS2 and SLC25A38 genes who became unresponsive after a period of treatment with vitamin B6 and iron chelators but achieved transfusion independence and a markedly reduced spleen after combination with luspatercept.

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来源期刊

Current Research in Translational Medicine Biochemistry, Genetics and Molecular Biology-General Biochemistry,Genetics and Molecular Biology

CiteScore

7.00

自引率

4.90%

发文量

审稿时长

45 days

期刊介绍： Current Research in Translational Medicine is a peer-reviewed journal, publishing worldwide clinical and basic research in the field of hematology, immunology, infectiology, hematopoietic cell transplantation, and cellular and gene therapy. The journal considers for publication English-language editorials, original articles, reviews, and short reports including case-reports. Contributions are intended to draw attention to experimental medicine and translational research. Current Research in Translational Medicine periodically publishes thematic issues and is indexed in all major international databases (2017 Impact Factor is 1.9). Core areas covered in Current Research in Translational Medicine are: Hematology, Immunology, Infectiology, Hematopoietic, Cell Transplantation, Cellular and Gene Therapy.