Etiological Classification, Classified Treatment E...

Etiological Classification, Classified Treatment Effect and Safety of Hemophilia

Liu Shanxi1,Xiao Yanfeng2,Yu Bing3,Liu Yiguo1,Qi Maofei1,Wang Penghui1

1.Shaanxi University's Institute of Hemophilia Shaanxi Xi'an 710032

2.Pediatrics Department, The Second Affiliated Hospital of Xi'an Jiaotong University Shaanxi Xi'an 710004

3.College of Medicine & Forensics, Xi'an Jiaotong University Shaanxi Xi'an 710061(https://www.daowen.com)

Abstract Objective To study the etiological classification of hemophilia and the efficacy and safety of classified therapy with non-factor drug.Methods The first phase of the blood coagulation method was adopted to detect FⅧ/FⅨ:C, Ni Jmegen method to detect FⅧ/FⅨ:Ab, and direct gene sequencing technology to detect FⅧ/FⅨ gene mutations for etiology classification.Under the condition of no FⅧ/FⅨ, congenital patients took compound hemophilia capsule, and the acquired patients with congenital concurrent antibodies were provided with immune rehabilitation therapy.Results Hemophilia patients were classified as congenital cases(79.45%, non-genetic 6.85%)and acquired cases(13.7%).After 28 days of treatment, the remission rate of bleeding and arthritis was 100%.Complete clearance rate of FⅧ/FⅨ:Ab was 93.75%, and the partial clearance rate was 6.25%.After treatment for 28d, 6months and 12months, FⅧ/FⅨ,APTT and FⅧ/FⅨ:Ab were redetected.For congenital cases, P value was less than 0.05 when comparison was made before and after treatment, while P was less than 0.01 for acquired cases with normal recover.Conclusion FⅧ/FⅨ gene mutation etiology classification method is precise and reliable.Classified treatment with non-coagulant drugs is valuable for the recovery of FⅧ/FⅨ and APTT, removal of antibodies, and prevention of bleeding。

Key words hemophilia; etiological classification; non-coagulant drugs; classified treatment; effect

血友病是一组以“三高”(出血率高、死亡率高、致残率高)为特征的常见X染色体因子Ⅷ/Ⅸ基因突变导致凝血因子Ⅷ/Ⅸ(FⅧ/FⅨ)缺乏的隐性遗传性严重出血性疾病[1-3]。有人报道30%的HA患者系自身FⅧ/FⅨ基因突变[3],1.5人/10万患者系获得性血友病A(AHA)[3],目前尚缺乏血友病统一的病因学分类标准和方法,给临床工作带来困惑。另外凝血因子替代治疗可并发FⅧ/FⅨ抗体的产生,加重出血、死亡和致残,成为血友病的严重并发症和新的挑战[4-7]。

为了实现血友病病因学分类的精准诊断与分类治疗,我院从2006年开始,先后完成了血友病凝血因子抗体的诊断及影响因素研究[8],一种用于治疗血友病的复方血友胶囊及其制备方法[9]、血友病患者年龄、性别及地理分布的初步研究[10],为完成73例血友病病因学分类与分类治疗奠定了基础,提供了理论依据,现予以报道。