Report on diagnosis and treatment of hemophilia in China 2023
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 he...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Diagnostics Concepts & Practice
2023-04-01
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| Series: | Zhenduanxue lilun yu shijian |
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| Online Access: | https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1693470319820-1617509162.pdf |
| _version_ | 1797729157678891008 |
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| author | XUE Feng, DAI Jing, CHEN Lixia, LIU Wei, ZHANG Houqiang, WU Runhui, SUN Jing, ZHANG Xinsheng, WU Jingsheng, ZHAO Yongqiang, WANG Xuefeng, YANG Renchi |
| author_facet | XUE Feng, DAI Jing, CHEN Lixia, LIU Wei, ZHANG Houqiang, WU Runhui, SUN Jing, ZHANG Xinsheng, WU Jingsheng, ZHAO Yongqiang, WANG Xuefeng, YANG Renchi |
| author_sort | XUE Feng, DAI Jing, CHEN Lixia, LIU Wei, ZHANG Houqiang, WU Runhui, SUN Jing, ZHANG Xinsheng, WU Jingsheng, ZHAO Yongqiang, WANG Xuefeng, YANG Renchi |
| collection | DOAJ |
| description | 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 2.73/100 000, and there was no statistical difference in prevalence among different regions. In 2014, Meta-analysis showed that the prevalence of hemophilia in China was 2.8/100 000, and in 2018, based on the data of the urban population of Tianjin, the local prevalence of hemophilia was estimated to be 3.09/100 000. 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 40 000 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. |
| first_indexed | 2024-03-12T11:25:00Z |
| format | Article |
| id | doaj.art-3e17ca0b9a1848139e9a22b22fcfba7b |
| institution | Directory Open Access Journal |
| issn | 1671-2870 |
| language | zho |
| last_indexed | 2024-03-12T11:25:00Z |
| publishDate | 2023-04-01 |
| publisher | Editorial Office of Journal of Diagnostics Concepts & Practice |
| record_format | Article |
| series | Zhenduanxue lilun yu shijian |
| spelling | doaj.art-3e17ca0b9a1848139e9a22b22fcfba7b2023-09-01T10:15:27ZzhoEditorial Office of Journal of Diagnostics Concepts & PracticeZhenduanxue lilun yu shijian1671-28702023-04-0122028911510.16150/j.1671-2870.2023.02.001Report on diagnosis and treatment of hemophilia in China 2023XUE Feng, DAI Jing, CHEN Lixia, LIU Wei, ZHANG Houqiang, WU Runhui, SUN Jing, ZHANG Xinsheng, WU Jingsheng, ZHAO Yongqiang, WANG Xuefeng, YANG Renchi01. Thrombosis and Hemostasis Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Scie-nces，Tianjin 300020，China;2. Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200023, China;3a. Department of Rehabilitation Medicine,3b. Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730，China;4. National Children's Medical Centre, Hematology Centre of Beijing Children's Hospital, Capital Medical University, Beijing 100045, China;5. Department of Hematology, Nanfang Hospital, Southern Medical University, Guangdong Guangzhou 510515, China;6. Shandong Blood Centre, Shandong Jinan 250013, China;7. Department of Hematology, The First Affiliated Hospital, University of Science and Technology of China， Anhui Hefei 230002，ChinaIn 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 2.73/100 000, and there was no statistical difference in prevalence among different regions. In 2014, Meta-analysis showed that the prevalence of hemophilia in China was 2.8/100 000, and in 2018, based on the data of the urban population of Tianjin, the local prevalence of hemophilia was estimated to be 3.09/100 000. 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 40 000 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.https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1693470319820-1617509162.pdf|hemophilia|prevalence|hereditary hemorrhagic disease|joint deformity|coagulant factor inhibitor |
| spellingShingle | XUE Feng, DAI Jing, CHEN Lixia, LIU Wei, ZHANG Houqiang, WU Runhui, SUN Jing, ZHANG Xinsheng, WU Jingsheng, ZHAO Yongqiang, WANG Xuefeng, YANG Renchi Report on diagnosis and treatment of hemophilia in China 2023 Zhenduanxue lilun yu shijian |hemophilia|prevalence|hereditary hemorrhagic disease|joint deformity|coagulant factor inhibitor |
| title | Report on diagnosis and treatment of hemophilia in China 2023 |
| title_full | Report on diagnosis and treatment of hemophilia in China 2023 |
| title_fullStr | Report on diagnosis and treatment of hemophilia in China 2023 |
| title_full_unstemmed | Report on diagnosis and treatment of hemophilia in China 2023 |
| title_short | Report on diagnosis and treatment of hemophilia in China 2023 |
| title_sort | report on diagnosis and treatment of hemophilia in china 2023 |
| topic | |hemophilia|prevalence|hereditary hemorrhagic disease|joint deformity|coagulant factor inhibitor |
| url | https://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1693470319820-1617509162.pdf |
| work_keys_str_mv | AT xuefengdaijingchenlixialiuweizhanghouqiangwurunhuisunjingzhangxinshengwujingshengzhaoyongqiangwangxuefengyangrenchi reportondiagnosisandtreatmentofhemophiliainchina2023 |