Haemophilia breakthrough 血友病治療方法的重大突破

本集內容

學習要點

有關“haemophilia 血友病”的詞匯

邊看邊答

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.

走兩英裡路去上班對傑克·奧馬爾來說曾是一件難以想象的事情，因為他有先天性A型血友病。這是一個基因缺陷，而因此導致血液無法凝結。

即使是最輕微的小傷也會造成大量的流血。甚至，散步時間稍長一些也會使得他的關節流血。但是現在，這一切都有所改觀。

傑克·奧馬爾，血友病患者
“我覺得基因療法給瞭我開啟新生活的希望。它使我能夠在我的兒子們成長的過程中，更多地跟他們一起玩耍、運動，比如跟他們一起踢球、爬樹，或者在公園裡奔跑。而不是太需要擔心自己的身體狀況。”

傑克是去年接受這項前沿基因治療的十三位病人中的一位。他被接種瞭一種病毒，用來給他的凝血功能下達一種新的遺傳指令。目前所有參加試驗的患者都已停藥，其中有十一位患者體內的凝血蛋白差不多達到瞭正常水平。

約翰·帕西教授，倫敦瑪麗女王大學醫學院首席研究員
“這是一項巨大的、具有開創性的試驗成果，因為它給嚴重血友病患者的凝血蛋白正常化提供瞭新的治療選擇。這絕對是個令人稱奇的研究成果。相比以前，患者為瞭能正常生活，每天得給自己註射凝血第八因子來防止出血，這絕對是一次變革。”

大規模的研究即將開始，這些研究將近一步觀察基因治療是否能取代定期註射，從而使患者的生活徹底改觀。

詞匯

genetic defect
基因缺損，基因缺陷

clot
凝結成塊

bleeding
出血，流血

blood clotting proteins
凝血蛋白

Factor Eight (Factor VIII)
凝血第八因子（外傷出血時幫助凝血的一種蛋白質）

你知道嗎？

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.

紅細胞通過血液將氧氣送到身體各個組織，白細胞則是人體的防禦機制。它們幫助機體尋找並摧毀細菌、病毒以及真菌。