Dordevic Ana, Mrakovcic-Sutic Ines, Pavlovic Sonja, Ugrin Milena, Roganovic Jelena
Department of Business Development, Jadran Galenski Laboratorij, Rijeka 51000, Croatia.
Faculty of Medicine, University of Rijeka, Rijeka 51000, Croatia.
World J Clin Cases. 2025 Apr 6;13(10):100223. doi: 10.12998/wjcc.v13.i10.100223.
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 severe β-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 of β-thalassemia syndromes and associated clinical phenotypes has paved the way for novel therapeutic options, including pharmacologic enhancers of effective erythropoiesis and gene therapy.
β地中海贫血综合征是一组由β珠蛋白基因分子缺陷导致血红蛋白β珠蛋白链合成受损引起的遗传性血红蛋白病，具有异质性。该疾病的特征包括无效红细胞生成、慢性溶血性贫血和铁过载。临床表现从无症状携带者到需要终身输血并伴有严重并发症的重度贫血不等。重度β地中海贫血患者的管理是一个全球性的健康问题，在低收入国家尤为突出。直到最近，管理策略还仅限于定期输血和铁螯合治疗，同种异体造血干细胞移植仅适用于一部分患者。对β地中海贫血综合征潜在病理生理机制及相关临床表型的深入了解为新的治疗选择铺平了道路，包括有效的红细胞生成的药物增强剂和基因治疗。
