单中心780例血友病患者的临床回顾性分析  

Clinical Retrospective Analysis of 780 Patients with Haemophilia A Single Haemophilia Center

作　　者：李斌 吴竞生 丁凯阳 郑昌成 徐修才 孙萍 

机构地区：[1]安徽医科大学附属省立医院,合肥230001

出　　处：《血栓与止血学》2010年第6期264-268,共5页Chinese Journal of Thrombosis and Hemostasis

基　　金：拜耳中国血友病诊疗中心发展项目;诺和诺德中国血友病防治基金

摘　　要：目的分析780例血友病患者的临床特征,包括发病年龄、临床症状、治疗、抗体产生、血液传播疾病等情况。方法对780例确诊的血友病患者的临床表现、实验室资料和治疗措施等进行回顾性分析,对部分患者进行了抗体检测和基因分析。结果 780例血友病患者中A型687例(88.1%),其中重型269例(39.2%),中型302例(44%),轻型106例(15.4%),亚临床型10例(1.4%);B型93例(11.9%),其中重型36例(38.7%),中型42例(45.2%),轻型12例(12.9%),亚临床型3例(3.2%)。患者初次发病的中位年龄为1.9岁(0.1～70岁);确诊中位年龄为5.1岁(0.1～70岁)。有血友病家族史者占33.2%。血友病A/B重型患者均自幼反复自发性出血,以关节、肌肉和皮肤黏膜出血为主,关节畸形者占43.0%;中型患者多为损伤后出血,以皮肤黏膜、关节出血为主,关节畸形者占25.3%;轻型患者以皮肤黏膜损伤后出血为主,关节畸形者占14.4%。对286例血友病A患者进行FⅧ:Ab测定,阳性例数为13例(4.55%)。18/509例血友病患者感染HBV(3.54%),42/509例感染HCV(8.25%),4/509例感染HIV(0.79%),271例(34.74%)不详。81例血友病A患者中3例为FⅧ内含子1倒位(3.7%),其中1例FⅧ:Ab阳性;25例为FⅧ内含子22倒位(30.9%),其中1例FⅧ:Ab阳性。结论本组血友病患者呈家族型分布倾向,诊断存在延迟。血友病A∶B为7.4∶1,以中重型患者为多,关节畸形发病率高。血友病A患者抑制物发生率比国内外报道低,多发生在中重型患者。血液传播疾病感染与患者反复输注未经病毒灭活的FFP、冷沉淀物或全血史有关。FⅧ内含子1/22倒位检测可用于血友病直接基因诊断和家系调查,可能是抑制物物发生的高危因素之一。Objective To analyze the clinical features of patients with hemophilia,including the age of onset,clinical symptoms,treatment,inhibitor production and blood transmitted diseases. Methods 780 patients with hemophilia were recruited in this retrospective study.Genetic assay and inhibitors detection were carried in some patients. Results During these 780 patients,687 of whom(88.1%)had haemophilia A(severe 269,moderate 302,mild 106,subclinical 10),and 93(11.9%)of haemophilia B(severe 36,moderate 42,mild 12,subclinical 3).The median age at initial bleeding symptoms was 1.9 years(0.1～70 years),but the time of initial diagnosis was 5.1 years(0.1～70 years).Of these patients,33.2% patients have family history.The data showed that recurrent and spontaneous bleeding after being born often took place in severe haemophilia patients,especially joints and muscles hemorrhage or mucous bleeding(43.0% patients had joint deformity).In patients with moderate haemophilia,the bleeding often occurred after being injured,especially joints hemorrhage or mucous bleeding,and 25.3% patients had joints deformity;In mild haemophilia patients,mucous hemorrhage were mostly seen,only 14.4% patients had joints deformity.FⅧ inhibitors were studied in 286 haemophila A,and 13 patients(4.55%)were positive.HBV infection were found in 18 patients(3.54%),HCV in 42 patients(8.25%),and HIV in 4 patients(0.79%).In 81 patients with haemophila A,intron 22 inversion were found in 25 cases(30.9%)and 3 cases(3.7%)were found to be intron 1 inversion,and each group had 1 case of FⅧ inhibitor positive. Conclusion Patients with haemophila in our center were characterized with familial distribution and delayed diagnosis.Haemophilia A:B is 7.4:1,most of them were in the severe and moderate condition,and high rates of joint deformity.The occurrence of Ⅷ inhibitor in haemophilia is lower than domestic and foreign reports,and most of them were sever and moderate patients.The patients infected blood transmitted diseases all had the history of repeated infusion

关 键 词：单中心 血友病 患者 亚临床型 回顾性分析 Center HAEMOPHILIA A 关节畸形 血液传播疾病 皮肤黏膜 重型 自发性出血 感染 发病 抑制物 阳性 内含子 治疗措施 诊断 黏膜损伤 

分 类 号：R[医药卫生]