中国重型血友病A的临床表现异质性及早期预测指标  

Clinical predictors for the phenotypic heterogeneity of severe hemophilia A in China

作　　者：李含[1] 孙竞[1] 周璇[1] 刘阳[1] 宋晓玲[1] 马庆辉[1] 

机构地区：[1]南方医科大学南方医院血液科,广东广州510515

出　　处：《南方医科大学学报》2013年第3期424-427,共4页Journal of Southern Medical University

基　　金：广东省自然科学基金(S2011010003897)

摘　　要：目的研究中国重型血友病A患者临床表现异质性特点,分析早期预测指标。方法收集223例重型血友病A患者（FⅧ：C≤2%）首次出血年龄、首次关节出血年龄、出血频率、关节畸形数目、体质量指数（BMI）等资料进行分析。结果重型血友病患者首次出血年龄中位数1岁（0~35岁）;首次出血〈1岁、≥2岁和≥6岁者分别为94/212（44.3%）、73/212（34.4%）和23/212（10.8%）;首次关节出血年龄中位数2.25岁,首次关节出血年龄≤1岁、≥2岁和≥6岁者分别为24/94（25.5%）、54/94（57.4%）和17/94（18.1%）,出生至今未发生过关节出血的7例,占7.4%;年出血频率中位数24次/年（1~120次/年）,年出血频率≤6次/年的例数为27例（12.9%）;但我国目前无关节畸形的重型患者仅24.7%.分析显示,临床表现较轻者（年出血≤6次/年）和临床表现较重者（年出血〉6次/年）的首次出血年龄中位数分别为2岁和1岁（P=0.002）,首次关节出血年龄中位数分别为3岁和2岁（P=0.014）,BMI分别为（16.63±2.67）kg/m2和（18.82±4.21）kg/m（2P=0.001）。结论首次出血年龄、首次关节出血年龄和BMI可能是中国人重型血友病A临床表现异质性的早期预测指标。Objective To observe the phenotypic heterogeneity of severe hemophilia A in China and investigate the clinical factors for defining the severity of the clinical presentations. Methods The data including the age of first bleeding and first joint bleeding, bleeding frequenc35 the number of joint deformities and body mass index （BMI） were collected from 223 patients with severe hemophilia A （FVIII：C≤2%）. Results The median age at first bleeding was 1 year （range： 0-35 years）. The percentages of patients with first bleeding age〈1 year, 〉,2 years and 〉,6 years were 44.3% （94/212）, 34.4% （73/212）, and 10.8% （23/212）, respectively. The median age at first joint bleeding was 2.25 years. The percentages of patients with first joint bleeding age ≤1 year, 〉,2 years and ≥6 years were 25.5% （24/94）, 57.4% （54/94）, and 18.1% （17/94）, respectively. The percentage of patients who did not have joint bleeding was 7.4% （7/94）. The median annual bleeding frequency was 24 per year （range： 1-120）, and the proportion of patients with annual bleeding episodes of less than 6 times was 12.9%. Only 24.7% of the patients were free of any joint deformities. Analysis showed that milder cases had older ages of first bleeding and first joint bleeding than the severe cases, and the milder cases had also significantly lower BMI. Conclusion The age of first bleeding and first joint bleeding and BMI may predict the clinical severity of hemophilia A in China in the early stage.

关 键 词：血友病A 重型血友病 临床表现异质性 体质量指数 

分 类 号：R554.1[医药卫生—血液循环系统疾病]