The contribution of multimer analysis in the diagnosis of von Willebrand disease

Abstract

Von Willebrand factor (vWF) is a large multimeric protein that plays an important role in primary Haemostasis. vWF circulates as a series of oligomers comprising different sized subunits. It is the largest molecular weight subunits that are important for primary Haemostasis. A reduction or dysfunction of vWF causes the Haemorrhagic disorder von Willebrand disease (vWD). VWD is the commonest bleeding disorder in humans with symptoms including bruising, epistaxis, menorrhagia and gasterointestinal or genitourinary bleeding. VWD is classified in to 3 types and several subtypes according to results determined by panel of laboratory assays. Analysis of the multimer structure is necessary for subtyping vWD. Traditional multimer analysis methods are time consuming and laborious. Sebia offer a semi-quantitive rapid multimer screening assay, HYDRASYS 5, with a one day turnaround time for results. This presentation will discuss the laboratory diagnosis of VWD and the use of the HYDRASYS 5 in the subtyping of vWD.

Speakers's biography

Dr Annette Bowyer, Lead Biomedical Scientist

Sheffield Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital

Dr Bowyer is the Lead Biomedical Scientist for the Haemophilia Assays section in the Department of Coagulation at Sheffield Haemophilia and Thrombosis Centre. The centre is designated an International Haemophilia Training Centre by the WFH.

Annette was awarded her PhD in Cardiovascular Science from the University of Sheffield with a thesis focusing on the laboratory diagnosis of mild Haemophilia A.

She has more than 20 years of experience in the diagnosis and monitoring of bleeding disorders with a current interest in laboratory issues surrounding extended half-life and non-substitutional treatment products for Haemophilia. Dr Bowyer is a member of the WFH laboratory Sciences committee and the UKHCDO laboratory working party, fellow of the Institute of Biomedical Science and member of ISTH and EAHAD.