血友病防治的进展中国医学科学院中国协和医科大学血液学研究所血液病医院杨仁池概况血友病是一种遗传性出血性疾病，呈X连锁隐性遗传。本病是由于凝血因子VIII 和IX 基因突变使FVIII 和FIX 质或量的异常所致。血友病甲在男性人群中的患病率约为1/5000 ，占血友病总数的80% 以上；血友病乙在男性人群中的患病率约为1/30000 ，占血友病总数的10% 20% 。目前，本病在发展中国家（如我国）的致残率和病死率远高于发达国家。替代治疗是唯一有效的治疗措施。因此，这类患者也是发生肝炎和爱滋病的高危人群。国内现状无足够的凝血因子制剂凝血因子制剂费用太高大多数血友病病人无医疗保险无全国性的血友病防治系统病人组织未获官方认可医护人员对本病认识不够病人及其家庭成员对本病认识不够多数医院不能对本病进行诊断（因为实验条件不具备）WFH Global Survey 2001/2 Country	 Pop. Diagnosed No. HTC Percapita (106) (%) FVIII use	 Australia 19 95 15 3.0 USA 278 87 140 3.4 Germany 82 82 6 5.5 Iran 63 82 10 0.5 Russia 146 81 4 0.1 Egypt 63 75 7 0.1 South Africa 42 52 10 0.6 India 998 12 56 0.01 China 1227 5 WFH Global Survey 2004 Australia: Hemophilia 1070, vWD 804 USA: Hemophilia 14886, vWD 9801 UK: Hemophilia 6109, vWD 5582 Germany: Hemophilia 4800, vWD 3100 Italy: Hemophilia 5319, vWD 2275 Russia: Hemophilia 7875, vWD 3380 Thailand: Hemophilia 1325, vWD 69 Turkey: Hemophilia 1929, vWD 100 South Africa: Hemophilia 1579, vWD 463 China: Hemophilia 4131, vWD 227 WFH Global Survey 2004 调查的国家：96 个覆盖的世界人口：85% 血友病：120812 例；vWD ：43334 例国家数据库：40 个Current Data Tianjin Hemophilia Center:1627 Anhui Hemophilia Center: 717 Shandong Hemophilia Center: 669 Jiangsu Hematology Institute: 389 Ruijin Hospital: 341 First affiliated hospital of Sun Yet-san University: 250 Nanfang Hospital: 169 Guangdong people’s hospital: 165 Peking Union College Hospital: 79 The third people’s hospital of Wenzhou: 60 Beijing People’s Hospital: 55 Beijing children hospital: 47 First affiliated hospital of Zhejiang University: 9 Total: 4577 Hemophilia and related disorders in Tianjin Hemophilia Center (1980-2002.6) Total:1312 Hemophilia A: 988 (75.3%) Hemophilia B: 186 (14.2%) vWD ：85 (6.5%) FXI deficiency ：23 (1.8%) Acquired FVIII deficiency ：15 (1.1%) Others ：15 (1.1%) Arthropathy in different ages 0-10: 48/386(12.4%) (15.2%) 10-20: 76/251(30 .3%)(35.0%) 20-30: 73/141(51 .8%)(55.7%) >30: 74/143(51 .7%)(72.3%) AIDS in recipient of coagulation factor concentrates (1978-85) 60-70% patients became infected with HIV Thousands of them have died of AIDS HIV infection increases the risk of liver failure after infection with HCV 21-fold (Estimated risk of liver failure 20 years after infection with HCV is 10%) 血友病的基因治疗世界上首例血友病基因治疗临床试验由薛京伦教授及其研究组完成FVIII 或FIX 基因缺陷小鼠的实验FVIII 或FIX 基因缺陷犬的实验现阶段的临床试验：载体-AAV 、腺病毒、逆转录病毒等途径-肌肉注射、肝静脉等China A Prioritized Project, WFH 1993 –1997: Education and Training 1997 –2001/02: Hemophilia Twinning Centres and Treatment Centre Development 2002 –2004: A Country Program with a Hemophilia Treatment Centre Network, China China A Prioritized Project, WFH In 1993, WFH launched a priority project to promote and improve Hemophilia Care in China. Objectives: Education Training Awareness Care improvements 1993 –1997: Education and Training Major activities focused on Hemophilia conferences for educating professionals, patients, families and hospital staff. Training, education, awareness and participation by patient groups increased. WFH fellowships were awarded to physicians, nurses, technologists and surgeons. This resulted in increased professionals with expertise in the clinics. 1997 –2001/02: Hemophilia Twinning Centres and Treatment Centre Development Under the WFH Hemophilia Twinning Centre program, 4 centres were established in China. 1997	Hematology Institute, Tianjin / Calgary, Canada 2000	Nanfang Hospital, Guangzhou / Ottawa, Canada 2000 Hong Kong/ London, UK 2001	Ruijin Hospital, Shanghai / Calgary and Ottawa		 Hemophilia Treatment Centres were developed in Jinan and Hefei. Patient Group Activities / Leadership Five patient leaders from four cities were identified and received leadership training in Montreal (2000) , Seville (2002) and Bangkok (2004). This group established the Hemophilia Home of China developing a website. They have been very active in their communities promoting patient care and participation. Many patient education materials have been translated into Chinese by this group. Vision for a National Strategy 2001 - 2004 As these centres matured, sharing of expertise and resources strengthened. Through this collaboration, the value of a National Body to coordinate development of Hemophilia Care in the country was realized. Project Progress National Registry –Project chair: Dr. Renchi Yang, Tianjin. Established 2002. Current registrants = 4132 patients (approx. %5 of estimated PWH in China). Poster presentation in Bangkok. Hemophilia Nursing –Project Chair: Dr. Jing Sun, Nanfang. Two Hemophilia Nursing conferences November 2003, October 2004. Poster presentation in Bangkok. Coagulation Testing Workshop –Project Chair: Dr. Xuefeng Wang, Shanghai, April 2005 2002 –2004: A Country Program with a Hemophilia Treatment Centre Network, China Between 2002 –2003 Dr. MC Poon and 	Dr. KH Luke visited centres in Beijing, Tianjin, Jinan, Shanghai, Hefei and Guangzhou and received unanimous support for a National Network. A proposal for a Country Program for China was supported by WFH. A WFH Hemophilia Conference was held to establish the network in 2004 in Shangdong Blood Center, Jinan, Shangdong. WFH Hemophilia Conference  March 2004, Jinan, China At this conference the Hemophilia Treatment Centre Collaborative Network China was formalized. The six founding members are: 1. Hemophilia Centre, Institution of Hematology, Tianjin 2. Hemophilia Centre, Nanfang Hospital, Guangzhou 3. Hemophilia Centre, Ruijin Hospital, Shanghai 4. Hemophilia Centre, Peking Union Medical College Hospital, Beijing 5. Hemophilia Centre, Anhui Provincial Hospital, Hefei 6. Hemophilia Clinic, Shandong Blood Centre, Jinan A great achievement was the vast representation of 150 professionals from 25 cities / provinces. A NETWORK OF HEMOPHILIA TREATMENT CENTRES HAS BEEN ESTABLISHED AS A SOLID FOUNDATION TO PROMOTE HEMOPHILIA 	CARE IN CHINA FOR THE FUTURE. Challenges Ahead MAJOR TARGETS 1. Provide accessible care to more patients with Hemophilia Outreach programs Education Workshops Hemophilia Nursing Patient group leaders / activities 2. Provide affordable care to more patient with Hemophilia A long-term goal –to lobby MOH to support affordable treatment products for patients Short-term goals –providing treatment for patients with prioritized needs 现状全国血友病协作组成立于1985 年，2000 年重组中国于1990 年成为世界血友病联盟（WFH ）的国家成员单位（由中国医学科学院血液学研究所代表）WFH 于1993 年在天津举行了国际血友病培训中心讲习班姐妹中心：1997 年，天津-加拿大Calgary ，获WFH 的1999 年度姐妹中心奖；2000 年，广州-渥太华；香港-伦敦；2002 年，上海- Calgary 与渥太华人员培训：已有16 人获WFH 资助，多数已在国外完成培训Publication Lu L, et al. Haemophilia 2004,10(5):661-664 Wang T, et al. Haemophilia 2004;10(4):370-375 Zhang L, et al. Haemophilia 2003, 9(5):696-702 Zhang L, et al. Chin Med J. 2004;117(6): 953-5 Yang R, et al. Haemophilia 1999, 5(6):453-456 Ji L, et al. Haemophilia 1998, 4(5):721-724 Acknowledgement Members of the National Hemophilia Registry Group of China: Dr. Peifang Ding, Dr. Jing Sun, Dr. Xuefeng Wang, Dr. Jingsheng Wu, Dr. Renchi Yang and Dr. Yongqiang Zhao Consultants: Prof. Man-Chiu Poon, Calgary, CANADA, and Dr. K.H. Luke, Ottawa, CANADA Prof. Changgeng Ruan, Prof. Hongli Wang, Prof. Chunguang Wen, Prof. Shuyan Zeng and Dr. Runhui Wu Hemophilia Patients Union of China At the Regional Hemophilia Care Conference, Guangzhou, Nov 2001, the professional groups agreed on: (1) Three priority projects for urgent development: 		(i) A National Registry 		(ii) Hemophilia Nursing 		(iii) Coagulation testing workshops. (2) A strategy to formulate a National Body, later	formalized as the “Hemophilia Treatment Centre Collaborative Network, China”. * * 血友病的严重程度与出血血友病甲和乙的分型重型		 中间型	 轻型因