当前位置: X-MOL 学术Annu. Rev. Genomics Hum. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Sickle Cell Anemia and Its Phenotypes
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2018-08-31 00:00:00 , DOI: 10.1146/annurev-genom-083117-021320
Thomas N Williams 1, 2 , Swee Lay Thein 3
Affiliation  

In the 100 years since sickle cell anemia (SCA) was first described in the medical literature, studies of its molecular and pathophysiological basis have been at the vanguard of scientific discovery. By contrast, the translation of such knowledge into treatments that improve the lives of those affected has been much too slow. Recent years, however, have seen major advances on several fronts. A more detailed understanding of the switch from fetal to adult hemoglobin and the identification of regulators such as BCL11A provide hope that these findings will be translated into genomic-based approaches to the therapeutic reactivation of hemoglobin F production in patients with SCA. Meanwhile, an unprecedented number of new drugs aimed at both the treatment and prevention of end-organ damage are now in the pipeline, outcomes from potentially curative treatments such as allogeneic hematopoietic stem cell transplantation are improving, and great strides are being made in gene therapy, where methods employing both antisickling β-globin lentiviral vectors and gene editing are now entering clinical trials. Encouragingly, after a century of neglect, the profile of the vast majority of those with SCA in Africa and India is also finally improving.

中文翻译:


镰状细胞性贫血及其表型

自镰状细胞性贫血(SCA)在医学文献中首次描述以来的 100 年里,对其分子和病理生理学基础的研究一直处于科学发现的前沿。相比之下,将这些知识转化为改善患者生活的治疗方法的速度太慢了。然而,近年来,在几个方面取得了重大进展。更详细地了解从胎儿血红蛋白到成人血红蛋白的转换以及BCL11A等调节剂的识别提供希望,这些发现将转化为基于基因组的方法,以治疗性再激活 SCA 患者的血红蛋白 F 产生。与此同时,空前数量的旨在治疗和预防终末器官损伤的新药正在研发中,异基因造血干细胞移植等潜在治愈性治疗的结果正在改善,基因治疗正在取得长足进步,其中使用抗镰刀型 β-珠蛋白慢病毒载体和基因编辑的方法现在正在进入临床试验。令人鼓舞的是,经过一个世纪的忽视,非洲和印度绝大多数 SCA 患者的状况也终于得到改善。

更新日期:2018-08-31
down
wechat
bug