Beta thalassemia syndromes:New insights  

作　　者：Ana Dordevic Ines Mrakovcic-Sutic Sonja Pavlovic Milena Ugrin Jelena Roganovic 

机构地区：[1]Department of Business Development,Jadran Galenski Laboratorij,Rijeka 51000,Croatia [2]Faculty of Medicine,University of Rijeka,Rijeka 51000,Croatia [3]Institute of Molecular Genetics and Genetic Engineering,University of Belgrade,Belgrade 11000,Serbia [4]Department of Pediatric Hematology and Oncology,Children’s Hospital Zagreb,Zagreb 10000,Croatia [5]Faculty of Biotechnology and Drug Development,University of Rijeka,Rijeka 51000,Croatia

出　　处：《World Journal of Clinical Cases》2025年第10期1-8,共8页世界临床病例杂志（英文）

摘　　要：Beta thalassemia(β-thalassemia)syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the hemoglobin.The hallmarks of the disease include ineffective erythropoiesis,chronic hemolytic anemia,and iron overload.Clinical presentation ranges from asymptomatic carriers to severe anemia requiring lifelong blood transfusions with subsequent devastating complications.The management of patients with severeβ-thalassemia represents a global health problem,particularly in low-income countries.Until recently,management strategies were limited to regular transfusions and iron chelation therapy,with allogeneic hematopoietic stem cell transplantation available only for a subset of patients.Better understanding of the underlying pathophysiological mechanisms ofβ-thalassemia syndromes and associated clinical phenotypes has paved the way for novel therapeutic options,including pharmacologic enhancers of effective erythropoiesis and gene therapy.

关 键 词：Beta thalassemia HEMOGLOBIN Molecular defects Ineffective erythropoiesis HEMOLYSIS TRANSFUSION Iron chelation Novel therapies 

分 类 号：R551.3[医药卫生—血液循环系统疾病] R556.61[医药卫生—内科学]