中国血友病诊治报告2023

Report on diagnosis and treatment of hemophilia in China 2023

近年来,我国高度重视罕见病的防治。作为罕见病的代表疾病之一,我国的血友病防治取得了较大进步。1986年至1989年,全国血友病研究协作组按统一的方法及标准开展了我国的血友病流行病学调查,结果显示我国的血友病患病率为2.73/10万人口,国内各地区间患病率差异无统计学意义。2014年,荟萃分析显示我国的血友病患病率为2.8/10万。2018年,基于天津城市人口的数据,推算天津当地的血友病患病率为3.09/10万。随着血友病分级诊疗体系建设的全面推进,我国要求申请血友病综合管理中心和诊疗中心的医院必须能独立开展血友病诊断相关筛查试验和确诊试验。血友病诊断中,对于凝血因子活性测定,我国多数实验室通常采用基于活化部分凝血活酶时间(activated partial thromboplastin time, APTT)检测的一期法(凝固法)。但需注意,对于某些特殊类型的血友病需采用2种以上的活性检测方法。我国患者F8基因的各突变类型与国际数据报道类似;我国患者F9基因突变以单个碱基点突变为主,未发现突变热点。截至2023年6月,我国共有261家中心通过全国血友病登记系统,登记包括血友病在内的遗传性出血性疾病共计4万余例。我国的血友病治疗史经过不充分按需治疗、小剂量预防治疗探索等,目前已经往更高疗效的较高剂量预防及个体化预防治疗迈进。本报告基于登记数据及文献,全面总结我国血友病领域临床研究以及医疗保障方面的进展,分析不足之处,以期为进一步提高我国血友病诊疗水平指明方向。

In recent years,China attaches great importance to the prevention and treatment of rare diseases.As one of the representative diseases of rare diseases,management of Hemophilia has made great progress in China.From 1986 to 1989,the National Hemophilia Cooperative Group conducted China's hemophilia epidemiological survey according to the unified method and standard,and the results showed that the prevalence of hemophilia was 2.73/100000,and there was no statistical difference in prevalence among different regions.In 2014,Meta-analysis showed that the prevalence of hemophilia in China was 2.8/100000,and in 2018,based on the data of the urban population of Tianjin,the local prevalence of hemophilia was estimated to be 3.09/100000.With the comprehensive promotion of the construction of hemophilia hierarchical diagnosis and treatment system,China requires that hospitals applying for hemophilia comprehensive management centers and diagnosis and treatment centers must be able to independently carry out screening tests and confirmatory tests related to hemophilia diagnosis.For diagnosis of hemophilia,most laboratories in China usually adopt the one-stage method(coagulation method)based on the activated partial thromboplastin time(APTT)for the determination of coagulation factor activity,but it should be noted that more than two activity detection methods are required for some special types of hemophilia.The types of each mutation in the F8 gene of patients in China are similar to those reported in international data,and the mutations in the F9 gene of our patients are mainly single base point mutations,with no mutation hotspots found.As of June 2023,a total of more than 40000 cases with inherited bleeding disorders registered in 261 centers in China(including hemophilia),through the National Hemophilia Registration System.The history of hemophilia treatment in China has been explored through inadequate on-demand and low-dose prophylaxis,and is now moving towards higher-dose prophylaxis and individualized prophylaxis with higher efficacy.Based on the above registry data and literature,this report comprehensively summarizes the progress of basic and clinical research and medical protection in the field of hemophilia in China,and analyzes the shortcomings for further improvement of hemophilia diagnosis and treatment in China.