Abstract：
Beta thalassemia is the most common genetic blood disorder, characterized by reduced production or complete absence of beta-globin chains. The combination of systematic red blood cell transfusion and iron chelation therapy is the most readily available supportive treatment and one that has considerably prolonged the survival of thalassemia patients. Despite this, the development of endocrine abnormalities correlated with beta thalassemia still exists and is mostly associated with iron overload, chronic anemia, and hypoxia. A multifactorial approach has been employed to investigate other factors involved in the pathogenesis of endocrinopathies, including genotype, liver disease, HCV, splenectomy, socioeconomic factors, chelation therapy, and deficiency of elements. The development of specific biomarkers for predicting endocrinopathy risk has been the subject of extensive discussion. The objective of the present narrative review is to present recent data on endocrinopathies in beta thalassemia patients, including the prevalence, the proposed pathogenetic mechanisms, the risk factors, the diagnostic methods applied, and finally the recommended treatment options.
摘要：
β地中海贫血是最常见的遗传性血液病,以β-珠蛋白链的产量减少或完全缺失为特征。系统性红细胞输注和铁螯合疗法的组合是最容易获得的支持性治疗，并且大大延长了地中海贫血患者的生存期。尽管如此,与β地中海贫血相关的内分泌异常的发展仍然存在，并且主要与铁过载有关，慢性贫血,和缺氧。已采用多因素方法来研究内分泌疾病发病机理中涉及的其他因素，包括基因型，肝病,HCV,脾切除术,社会经济因素,螯合疗法,元素的缺乏。用于预测内分泌疾病风险的特异性生物标志物的开发一直是广泛讨论的主题。本叙述性综述的目的是提供有关β地中海贫血患者内分泌疾病的最新数据，包括患病率，拟议的致病机制，风险因素，应用的诊断方法，最后是推荐的治疗方案。
