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血红蛋白E是世界上最常见和最重要的异常血红蛋白之一,而血红蛋白E/β地中海贫血患者在我国及世界各地患病人数与日俱增,由于其病理生理的复杂性、临床表现的各异性及在治疗过程中各种因素的限制,大部分的患者生命依然受到死亡的威胁。通过对血红蛋白E/β地中海贫血相关研究的回顾和学习,就血红蛋白E/β地中海贫血的发病机制、病理生理、临床表现、诊断及治疗策略的研究进展予以综述。
Hemoglobin E is one of the most common and important abnormal hemoglobin in the world. The number of patients with hemophilia E / β thalassemia is increasing in our country and around the world. Due to the complexity of pathophysiology and the heterogeneity of clinical manifestations, Due to various factors in the process, most patients’ lives are still threatened with death. Through reviewing and studying the related studies of hemoglobin E / β thalassemia, the research progress on the pathogenesis, pathophysiology, clinical manifestations, diagnosis and treatment strategies of hemoglobin E / β thalassemia are reviewed.