无效红细胞生成
红细胞生成
铁粒细胞性贫血
医学
贫血
补血的
内科学
骨髓增生异常综合症
吡哆醇
骨髓
作者
Yuanyuan Shao,Linyun He,Shaoxue Ding,Rong Fu
标识
DOI:10.1016/j.retram.2024.103438
摘要
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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