地中海贫血的临床治疗进展

Progress in clinical treatment of thalassemia

地中海贫血是我国南方地区最常见的单基因隐性遗传病,其发病机制为基因变异导致血红蛋白α链及非α链合成比例失衡,临床表现为慢性溶血性贫血及铁过载等异常。目前地中海贫血的治疗方法包括输血结合去铁治疗、药物治疗、造血干细胞移植、基因治疗和铁调素相关治疗等,该文对其临床治疗进展作一综述。

Thalassemia is the most common autosomal recessive inheritance disease in southern parts of China.The pathogenesis of thalassemia is the genetic variation leading to an imbalance in the synthesis ratio of hemoglobinαchain and non-αchain,and the clinical manifestations of thalassemia are abnormalities such as chronic hemolytic anemia and iron overload.The current treatment methods of thalassemia include blood transfusion combined with iron removal therapy,drug therapy,hematopoietic stem cell transplantation,gene therapy and hepcidin-related therapy.The progress in clinical treatment of thalassemia is reviewed in this paper.