Xuan Min, Xue Feng, Fu Rongfeng, Yang Yanhui, Zhang Lei, Tian Mengsu, Yang Renchi
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 288 Nanjing Road, Tianjin, 300020, People's Republic of China,
J Thromb Thrombolysis. 2014 Jul;38(1):92-7. doi: 10.1007/s11239-013-1009-6.
Haemophilia A (HA) and B (HB) are X-linked congenital disorders caused by deficiencies of Factor VIII and FIX. Being the world's most populous country, China potentially has a large population of haemophilia patients. During the last decade, no studies have been published regarding the clinical information of haemophilia in China. A retrospective study was conducted in patients with HA and HB referred to Tianjin Haemophilia Centre between 2002 and 2012. We identified 1,226 males with haemophilia (1,019 HA and 207 HB). The results revealed that activate partial thromboplastin time was negatively correlated plasma factor level of person with haemophilia. Our data did not offer sufficient evidence of any relationship existed between disease severity and risk or site of haemorrhage. There was a trend toward a higher inhibitor incidence induced by plasma-derived factor VIII products, than by recombinant FVIII (rFVIII) alone. It seemed that second generation of rFVIII more likely developed inhibitor, and first generation of rFVIII was nevertheless more closely connected to high-titer inhibitor. We found that delay in diagnosis and blood-borne infections were significantly reduced, while the joint deformity rate did not decrease despite the wide variety of products to choose from in this decade. The development of inhibitor still remains a major challenge in replacement therapy in haemophilia.
甲型血友病（HA）和乙型血友病（HB）是由凝血因子 VIII 和 FIX 缺乏引起的 X 连锁先天性疾病。作为世界上人口最多的国家，中国可能有大量血友病患者。在过去十年中，尚未发表关于中国血友病临床信息的研究。对 2002 年至 2012 年期间转诊至天津血友病中心的 HA 和 HB 患者进行了一项回顾性研究。我们确定了 1226 名男性血友病患者（1019 例 HA 和 207 例 HB）。结果显示，活化部分凝血活酶时间与血友病患者的血浆因子水平呈负相关。我们的数据没有提供足够的证据证明疾病严重程度与出血风险或部位之间存在任何关系。与单独使用重组 FVIII（rFVIII）相比，血浆源性凝血因子 VIII 产品诱导抑制剂产生的发生率有更高的趋势。似乎第二代 rFVIII 更有可能产生抑制剂，而第一代 rFVIII 与高滴度抑制剂的联系更为密切。我们发现，尽管在这十年中有多种产品可供选择，但诊断延迟和血源性感染显著减少，而关节畸形率并未降低。抑制剂的产生仍然是血友病替代治疗中的一个主要挑战。
