1 Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University , Shanghai, P.R. China .
2 Key Laboratory of Embryo Molecular Biology, Ministry of Health and Shanghai Key Laboratory of Embryo and Reproduction Engineering , Shanghai, P.R. China .
Hum Gene Ther. 2018 Feb;29(2):197-203. doi: 10.1089/hum.2017.228.
Thalassemia is a recessive monogenic hematological disease associated with reduced amounts of functional hemoglobin caused by mutations/deletions in at least one of the globin genes. This disease has attracted significant attention throughout the years in terms of genetic diagnosis and developments in gene and cell therapy. Here, recent progress is reviewed in the genetic diagnosis and development of therapeutics for thalassemia, particularly β-thalassemia, in China and around the world.
地中海贫血是一种隐性单基因血液疾病，由至少一个珠蛋白基因的突变/缺失导致功能性血红蛋白数量减少。多年来，这种疾病在基因诊断以及基因和细胞治疗方面的发展引起了广泛关注。本文综述了中国及世界范围内地中海贫血（尤其是β-地中海贫血）的遗传诊断和治疗方法的最新进展。
