2A型血管性血友病的临床研究

Clinical studies on the phenotype of type 2A von Willebrand disease

目的 研究 2 A型血管性血友病 (v WD)的临床表型。方法 对 5 3例具有先天性出血性倾向的患者进行了出血时间 (BT)、血浆凝血酶原时间 (PT)、活性化部分凝血激酶时间 (APTT)、凝血酶时间 (TT)及瑞斯托霉素诱导的血小板聚集功能、血浆 v WF:Ag的检测。结果 初步诊断 2 A型血管性血友病 4例 ,其中女性 2例 ,男性 2例。结论 2 A型血管性血友病是质异常的常见类型 ,其临床表现具有高度异质性。

Objective To investigate the phenotype of type 2A von Willebrand disease(vWD).Methods A total of 53 patients with hereditary hemorrhagic tendency was screened using bleeding time(BT),PT,APTT,TT,vWF:Ag,and ristocetin induced platelet aggregation assay (RIPA).Results Four cases were diagnosed initially as type 2A vWD,including 2 males and 2 females.Conclusion The type 2A von Willebrand disease is the most common qualitative variant.And this is a heterogenous disorder.