Hotea Ionut, Brinza Melen, Blag Cristina, Zimta Alina-Andreea, Dirzu Noemi, Burzo Corina, Rus Ioana, Apostu Dragos, Benea Horea, Marian Mirela, Mester Alexandru, Pasca Sergiu, Iluta Sabina, Teodorescu Patric, Jitaru Ciprian, Zdrenghea Mihnea, Bojan Anca, Torok-Vistai Tunde, Niculescu Radu, Tarniceriu Cristina, Dima Delia, Truica Cristina, Serban Margit, Tomuleasa Ciprian, Coriu Daniel
Department of Hematology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca, Romania.
Department of Hematology, Ion Chiricuta Clinical Cancer Center, Cluj Napoca, Romania.
Ann Transl Med. 2021 Jul;9(13):1091. doi: 10.21037/atm-21-747.
Hemophilia A (HA) and hemophilia B (HB) are rare disorders, being caused by the total lack or under-expression of two factors from the coagulation cascade coded by genes of the X chromosome. Thus, in hemophilic patients, the blood does not clot properly. This results in spontaneous bleeding episodes after an injury or surgical intervention. A patient-centered regimen is considered optimal. Age, pharmacokinetics, bleeding phenotype, joint status, adherence, physical activity, personal goals are all factors that should be considered when individualizing therapy. In the past 10 years, many innovations in the diagnostic and treatment options were presented as being either approved or in development, thus helping clinicians to improve the standard-of-care for patients with hemophilia. Recombinant factors still remain the standard of care in hemophilia, however they pose a challenge to treatment adherence because they have short half-life, which where the extended half-life (EHL) factors come with the solution, increasing the half-life to 96 hours. Gene therapies have a promising future with proven beneficial effects in clinical trials. We present and critically analyze in the current manuscript the pros and cons of all the major discoveries in the diagnosis and treatment of HA and HB, as well as identify key areas of hemophilia research where improvements are needed.
甲型血友病(HA)和乙型血友病(HB)是罕见疾病,由X染色体基因编码的凝血级联中的两种因子完全缺乏或表达不足引起。因此,血友病患者的血液无法正常凝结。这导致受伤或手术干预后出现自发性出血发作。以患者为中心的治疗方案被认为是最佳的。年龄、药代动力学、出血表型、关节状况、依从性、身体活动、个人目标都是个体化治疗时应考虑的因素。在过去十年中,诊断和治疗选择方面有许多创新成果被批准或正在研发,这有助于临床医生提高血友病患者的护理标准。重组因子仍然是血友病治疗的标准,但它们对治疗依从性构成挑战,因为其半衰期短,而延长半衰期(EHL)因子解决了这一问题,将半衰期延长至96小时。基因疗法前景广阔,在临床试验中已证明具有有益效果。我们在本手稿中展示并批判性地分析了HA和HB诊断与治疗方面所有主要发现的利弊,并确定了血友病研究中需要改进的关键领域。