Haemophilia breakthrough 血友病治疗方法的重大突破

学习要点

有关“haemophilia 血友病”的词汇

边看边答

What was used to give Jake's body new genetic instructions for clotting blood?

文字稿

Walking two miles to work used to be unthinkable for Jake Omer. He was born with haemophilia A, a genetic defect that means his blood did not clot.

The slightest injury used to mean severe bleeding. Even a long stroll would cause bleeding in his joints. But no more.

Jake Omer, Haemophiliac
“I think the gene therapy has hopefully given me a new lease of life. It's going to allow me, when as my boys grow up, to be a lot more active with them - to kick footballs around, to climb trees with them, to hopefully run around in the park with them - and not be someone who's got to worry about what I'm doing.”

Jake was one of 13 patients given pioneering gene therapy last year. A virus was used to give his body new genetic instructions for clotting blood. All of the trial patients are off the haemophilia medication and 11 have roughly normal levels of blood clotting proteins.

Professor John Pasi, lead researcher, Barts and Queen Mary University of London
“This is huge! It's ground-breaking because the option to think about normalising levels in patients with severe haemophilia is absolutely mind-blowing. To offer people the potential of a normal life when they have had to inject themselves with Factor VIII every other day to prevent bleeding is transformational.”

Large studies will now take place to see if gene therapy can replace these regular injections and truly transform the lives of patients.

走两英里路去上班对杰克·奥马尔来说曾是一件难以想象的事情，因为他有先天性A型血友病。这是一个基因缺陷，而因此导致血液无法凝结。

即使是最轻微的小伤也会造成大量的流血。甚至，散步时间稍长一些也会使得他的关节流血。但是现在，这一切都有所改观。

杰克·奥马尔，血友病患者
“我觉得基因疗法给了我开启新生活的希望。它使我能够在我的儿子们成长的过程中，更多地跟他们一起玩耍、运动，比如跟他们一起踢球、爬树，或者在公园里奔跑。而不是太需要担心自己的身体状况。”

杰克是去年接受这项前沿基因治疗的十三位病人中的一位。他被接种了一种病毒，用来给他的凝血功能下达一种新的遗传指令。目前所有参加试验的患者都已停药，其中有十一位患者体内的凝血蛋白差不多达到了正常水平。

约翰·帕西教授，伦敦玛丽女王大学医学院首席研究员
“这是一项巨大的、具有开创性的试验成果，因为它给严重血友病患者的凝血蛋白正常化提供了新的治疗选择。这绝对是个令人称奇的研究成果。相比以前，患者为了能正常生活，每天得给自己注射凝血第八因子来防止出血，这绝对是一次变革。”

大规模的研究即将开始，这些研究将近一步观察基因治疗是否能取代定期注射，从而使患者的生活彻底改观。

词汇

genetic defect
基因缺损，基因缺陷

clot
凝结成块

bleeding
出血，流血

blood clotting proteins
凝血蛋白

Factor Eight (Factor VIII)
凝血第八因子（外伤出血时帮助凝血的一种蛋白质）

你知道吗？

Red blood cells carry oxygen around the body. White blood cells are the body's defence mechanism. They seek out and destroy bacteria, viruses and fungi.

红细胞通过血液将氧气送到身体各个组织，白细胞则是人体的防御机制。它们帮助机体寻找并摧毁细菌、病毒以及真菌。

问题答案

A virus was used to give his body new genetic instructions for clotting blood.