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Molecular and clinical markers for diagnosis and management of type 1 von willebrands disease


Type 1 von Willebrands disease (VWD) is the most common inherited bleeding disorder and results from deficiency of von Willebrand factor (VWF), a plasma protein required for normal haemostasis. Diagnosis is based on laboratory tests and a bleeding history, but can be equivocal. Precise diagnosis is important for the patient and family; misdiagnosis leads to unnecessary medical and social burdens. This project will determine molecular and clinical markers for the diagnosis and management of type 1 VWD by assessing 200 families with type 1 VWD, recruited by 12 Partners. The phenotypic basis of the diagnosis will be re-examined utilising International standards and result confirmation, new tests will be assessed and the genetic basis determined by VWF gene analysis and expression. Data on precise molecular, clinical and laboratory markers for type 1VWD will be produced.

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Glossop road
S10 2JF Sheffield
United Kingdom

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Participants (12)