title: Phenotypic implications of a co-existent haemorrhagic and thrombotic genotype.
abstract: Inherited bleeding disorders such as Von Willebrands disease (VWD) present with varying bleeding tendencies in different individuals. There have been several attempts to identify the determinants for this varying severity of the haemorrhagic manifestations, especially in those with milder forms or type 1 VWD. Genetic mutations have been noted in persons with haemophilia to be contributing to a milder bleeding phenotype. This report describes the clinical implications of a similar mixed haemorrhagic-thrombotic genotype.
authors.affiliation: Department of Haematology, Roald Dahl Haemostasis and Thrombosis Centre, Royal Liverpool University Hospital, UK.
authors.forename: Jecko
authors.initials: J
authors.lastname: Thachil
authors.forename: Vanessa
authors.initials: V
authors.lastname: Martlew
mesh_terms: D001777:Blood Coagulation / Q000235:genetics*; D005260:Female; D005838:Genotype; D006470:Hemorrhage / Q000097:blood / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype; D013927:Thrombosis / Q000097:blood / Q000235:genetics*; D014842:von Willebrand Diseases / Q000097:blood / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor