Pediatrics Medicine & Public Health Sciences, University of Toronto & Toronto General Hospital Research Institute, Toronto, Canada.
Indian J Med Res. 2011 Oct;134(4):522-31.
Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is the genotype responsible for approximately one-half of all severe beta-thalassaemia worldwide. The disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. The phenotypic variability of Hb E/β-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive recommendations for the optimal management of patients. Genetic factors influencing the severity of this disorder include the type of beta-thalassaemia mutation, the co-inheritance of alpha-thalassaemia, and polymorphisms associated with increased production of foetal haemoglobin. Other factors, including a variable increase in serum erythropoietin in response to anaemia, previous or ongoing infection with malaria, previous splenectomy and other environmental influences, may be involved. The remarkable variation, and the instability, of the clinical phenotype of Hb E beta-thalassaemia suggests that careful tailoring of treatment is required for each patient, and that therapeutic approaches should be re-assessed over-time.
血红蛋白 E-β 地中海贫血（Hb E/β-地中海贫血）是导致全球约一半重型β-地中海贫血的基因型。该疾病的特征是临床表现明显多变，从轻度无症状贫血到需要从婴儿期开始输血的危及生命的疾病。Hb E/β-地中海贫血的表型变异性和缺乏长期临床数据，给提供患者最佳管理的明确建议带来了挑战。影响该疾病严重程度的遗传因素包括β-地中海贫血突变的类型、α-地中海贫血的共同遗传以及与胎儿血红蛋白产量增加相关的多态性。其他因素，包括对贫血的血清促红细胞生成素的可变增加、以前或正在发生疟疾感染、以前的脾切除术和其他环境影响，也可能参与其中。Hb Eβ-地中海贫血的临床表型的显著变化和不稳定性表明，需要为每个患者量身定制治疗方案，并且随着时间的推移，治疗方法应重新评估。
