Additional markers for genetic diagnosis of type 3 von Willebrand disease in Indian population
نویسندگان
چکیده
von Willebrand disease (VWD) encompasses a wide spectrum of bleeding disorders with severity ranging from moderate bleeding tendency to severe life threatening haemorrhage, estimated to affect approximately 0.5 2 per cent of the population in the Western countries1. Patients present with mucocutaneous bleeding symptoms, epistaxis, mucosal bleeding, prolonged bleeding from cuts, post-dental extraction bleeding, menorrhagia and gastrointestinal bleeding. These are classified as types 1, 2 and 3, depending on the qualitative and quantitative defects in von Willebrand factor (VWF) antigen. Diagnosis, genetic counselling, carrier and antenatal diagnosis play an important role in the comprehensive management of these cases.
منابع مشابه
The role of exon 45 and 16 in the pathogenesis of Von Willebrand disease in Iranian Patients
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