β地中海贫血实验室诊断的研究进展

• 作 者: 杨金玲 郑敏
• 机 构: 柳州市妇幼保健院新生儿筛查中心,
• 出 处: 中国优生与遗传杂志
• 发表日期: 2016年04期
• 关键词: β地中海贫血 基因型 β地贫 血液细胞 单基因遗传病 基因诊断 致残性 遗传咨询 出生缺陷 产前诊断

β地中海贫血(简称β地贫)是世界上最常见的的单基因遗传病之一,我国南方β地中海贫血基因携带率高,大部分纯合子症状严重需要定期输血才能维持生命,给社会和家庭造成了巨大的精神和经济压力,被列为出生缺陷重点干预病种。由于重型和中间型的β地贫均为致死性或致残性血液病,目前尚无理想的根治方法,因此,必须通过大样本筛查,遗传咨询以及产前诊断避免重型胎儿出生。本文就β地中海贫血流行病学、分子病学、血液学筛查、

β thalassemia (β thalassemia) is one of the most common single genetic diseases in the world. The gene transfer rate of β thalassemia major in southern China is high, and most of the homozygous symptoms require serious blood transfusion in order to maintain their life. Caused tremendous mental and economic stress and was classified as a key intervention in birth defects. As both heavy and intermediate beta thalassemia are fatal or disabling hematological disorders, there is currently no ideal cure and therefore heavy fetuses must be born to avoid heavy fetuses through large sample screening, genetic counseling and prenatal diagnosis. In this paper, β-thalassemia epidemiology, molecular disease, hematology screening,