Factor V short isoforms-related bleeding disorder

定义 英文原文（暂无中文）

A rare genetic, hemorrhagic disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, bleeding gums and excessive bleeding after minor trauma or surgical procedures. Severity of bleeding is variable and blood transfusion may be required. Affected females may have menorrhagia. Patients present with a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, normal protein C activity and elevated tissue factor pathway inhibitor levels. It is caused by different mutations in factor V (FV) gene leading to short isoforms of the FV protein. Point mutation at A2440G is known as East Texas beeding disorder, point mutation at C2588G is known as Amsterdam bleeding disorder and a large deletion in F5 exon 13 is known as Atlanta bleeding disorder.

别名

FV short isoforms-related bleeding disorder

基本事实

遗传方式

常染色体显性

发病年龄

无数据

患病率

<1 / 1 000 000

外部标识与链接