【摘要】 目的：探讨中国人血小板无力症患者的临床和病理特点。方法：分析了２５ 例血小板无力症的临床表现、代偿机制、实验室检查、分子基础、治疗和预防措施。结果：２５ 例血小板无力症患者Ⅰ型２０ 例，Ⅱ型２ 例，变异型３ 例，已鉴定出血小板膜糖蛋白ＧＰⅡｂ，Ⅲａ 基因６ 种类型分子缺陷，包括错义突变、无义突变、剪接点突变和小片段ＤＮＡ丢失。结论：出血症状严重程度和分子缺陷之间无明显关系。更多还原

【Abstract】 Objective:To investigate clinical and pathological features in chinese patients with Glanzmann thrombasthenia.Method:Data of 25 GT patients were retrospectively studied,including clinical demonstration,lab findings,possible compensative mechanism,medical treatment and preventing for GT patients.Results:Among 25 patients,20 were classified as type Ⅰ,2 as type Ⅱ and 3 as variant GT patients.6 different kinds of molecular defects of platelet GP Ⅱb,Ⅲa genes were identified,which included missense mutation,non sense mutation,splice site mutation and deletion of small fragment DNA.Conclusion:There was no correlation between the type of molecular defect and the severity of hemorrhage.更多还原