VON WILLEBRAND DISEASE A Discussion for Clinicians
نویسنده
چکیده
منابع مشابه
Frequency Assessment of the H817Q (2451T→A) Variant of von Willebrand Gene in Individuals without Hemorrhagic Signs
Abstract Background and Aims: Von Willebrand disease is a bleeding disorder caused by quantitative or functional defects in von Willebrand factor. The disease is found in up to 1 percent of the population. The most common symptom is mucocutaneous bleeding. Recently, studies conducted on healthy people showed that the H817Q mutation that previously known to cause von Willebrand...
متن کاملGenetic Variations in Exon 3 of VWF Gene in Patients with Von Willebrand Disease (VWD) from South-West Iran
Abstract Background Von Willebrand disease (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in Von Willebrand Factor (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulato...
متن کاملMultiple Sclerosis Diagnosed in a Woman With Von-Willebrand Disease: A Case Report
Background: Von-Willebrand Disease (VWD) is the most common inherited bleeding disorder with an autosomal inheritance pattern. Multiple Sclerosis (MS) is a neurological disease, causing neurodegeneration and demyelination of the central nervous system through autoimmune mechanisms, and is a major cause of non-traumatic disabilities in youths. Some studies have shown the higher plasma activity o...
متن کاملThe role of exon 45 and 16 in the pathogenesis of Von Willebrand disease in Iranian Patients
Abstract Background Von Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder with deficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF is located on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene is responsible for the clinical features of VWD, but some single nucleotide polymorphisms make the molecu...
متن کاملEvaluation of Normal Range of Bleeding Scores in Healthy Iranian Adults using the International Society on Thrombosis and Hemostasis Bleeding Assessment Tool
Background: Bleeding assessment tools are key components in the evaluation of patients suspicious for bleeding disorders. The exact determination of the normal ranges of ISTH-BAT (International Society on Thrombosis and Hemostasis –Bleeding Assessment Tool) in the healthy population is a crucial step for determining who needs to be referred for further coagulation laboratory examinations. We ai...
متن کامل