[Inherited bleeding disorders common in Jews].
关键词
抽象
Four inherited disorders of hemostasis have been identified in Jews with a relatively high frequency: Factor XI deficiency, factor VII deficiency, combined factor V and VIII deficiency and GLanzmann thrombasthenia. During the past decades, the bleeding manifestations of these disorders, the diagnosis, the molecular-genetic basis and therapy have been discerned. Furthermore, the prevalence of the respective mutant genes have been delineated in various Jewish Communities. Each one of the disorders can serve as a model enabling better understanding of the pathophysioLogy of the coagulation systems. On the basis of data obtained from the research of Glanzmann thrombasthenia, several widely used drugs have been developed as effective antithrombotic agents.