论文部分内容阅读
β珠蛋白生成障碍性贫血(简称β地贫)是华南地区高发的遗传病之一,依据临床可依次划分为轻型、中间型和重型地贫。其中中间型β地贫是一组尚难以根据β珠蛋白基因型来准确诊断和预测临床表型的疾病,故其分子基础的系统研究倍受关注。中间型地贫发病的分子基础主要包括α、β和γ珠蛋白基因3种主要修饰因素,以及部分新发现的二级修饰因素。阐明中间型β地贫的分子病理学机制对于指导临床诊治、遗传咨询和病例随访具有重要意义。
β-globin aplastic anemia (referred to as β thalassemia) is one of the high incidence of genetic diseases in southern China, according to the clinical can be divided into light, intermediate and heavy thalassemia. Among them, β-thalassemia intermedia is a group of diseases that are difficult to accurately diagnose and predict the clinical phenotype according to the β-globin genotype. Therefore, the systematic study of molecular basis has drawn much attention. The molecular basis of the pathogenesis of intermediate thalassemia mainly includes three major modification factors of α, β and γ-globin gene and some newly discovered secondary modification factors. To elucidate the molecular pathogenesis of β-thalassemia intermedia is of great importance to guide clinical diagnosis and treatment, genetic counseling and case follow-up.