Wróblewska Kinga, Bieszczad Dominika, Popławska Magdalena, Ziętara Karolina Joanna, Zajączkowska Monika, Filip Agata
Students' Scientific Association at the Department of Cancer Genetics with Cytogenetics Laboratory, Medical University of Lublin, Ul. Radziwiłłowska 11, 20-080, Lublin, Poland.
Student Scientific Association at the Department of Psychology, Faculty of Medicine, Medical University of Lublin, 20-093, Lublin, Poland.
J Appl Genet. 2025 Apr 3. doi: 10.1007/s13353-025-00952-w.
Hemophilia B is a disease that affects the human coagulation system, causing the absence or deficiency of coagulation factor IX, which may manifest itself in uncontrolled bleeding that is life-threatening to patients. Due to its inheritance, the disease more often affects men, and the severity of symptoms directly correlates with the concentration of the missing factor IX; hence, the aim of therapy is to maintain it at a level that allows for sufficient hemostasis. The basic model of treatment offered to patients is based on primary prevention with coagulation factor IX with a prolonged half-life, which, however, does not solve the numerous problems faced by patients. An innovative proposal that, despite initial concerns, is becoming more and more popular every day is the recently approved genetic therapy in Europe, which uses viral vectors to transfer the correct gene that encodes coagulation factor IX. The introduction of a recombinant gene in place of its defective counterpart seems to be a promising solution and the beginning of a new era in which genetic therapies have a chance to develop their full potential and replace existing therapeutic regimens.
乙型血友病是一种影响人体凝血系统的疾病，会导致凝血因子IX缺乏或不足，这可能表现为不受控制的出血，对患者的生命构成威胁。由于其遗传性，该疾病更常影响男性，症状的严重程度与缺失的因子IX的浓度直接相关；因此，治疗的目标是将其维持在足以实现止血的水平。提供给患者的基本治疗模式基于使用半衰期延长的凝血因子IX进行一级预防，然而，这并不能解决患者面临的众多问题。尽管最初存在担忧，但一项创新方案每天都越来越受欢迎，这就是最近在欧洲获批的基因疗法，它使用病毒载体来转移编码凝血因子IX的正确基因。引入重组基因来替代有缺陷的对应基因似乎是一个有前景的解决方案，也是一个新时代的开端，在这个时代，基因疗法有机会充分发挥其潜力并取代现有的治疗方案。
