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Related Concept Videos

Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Hemorrhagic Stroke ll: Pathophysiology01:29

Hemorrhagic Stroke ll: Pathophysiology

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Peptic Ulcer Disease I: Introduction

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No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation.

Veronica H Flood1, Kenneth D Friedman, Joan Cox Gill

  • 1Department of Pediatrics, Division of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI, USA. vflood@mcw.edu

Blood
|March 23, 2013
PubMed
Summary

The D1472H variant in von Willebrand factor (VWF) affects lab tests for von Willebrand disease (VWD). However, this genetic variation does not appear to increase bleeding symptoms in patients with type 1 VWD.

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Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
08:30

Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation

Published on: August 14, 2017

Area of Science:

  • Hematology
  • Genetics
  • Clinical Diagnostics

Background:

  • Diagnosis of von Willebrand disease (VWD) is challenging due to limitations in current laboratory assays.
  • The ristocetin cofactor activity assay (VWF:RCo) is particularly problematic.
  • A previously identified VWF A1 domain sequence variation, p.D1472H, affects the VWF:RCo/VWF antigen (VWF:Ag) ratio.

Purpose of the Study:

  • To investigate the impact of the p.D1472H sequence variation on VWF:RCo/VWF:Ag ratio and bleeding symptoms in type 1 VWD patients.
  • To expand on previous findings in healthy controls.

Main Methods:

  • Analysis of VWF:RCo and VWF:Ag levels in type 1 VWD subjects with and without the D1472H variation.
  • Comparison of bleeding scores between these groups.

Main Results:

  • Type 1 VWD subjects with D1472H showed a significantly decreased VWF:RCo/VWF:Ag ratio compared to those without the variant.
  • This ratio decrease was consistent with findings in healthy individuals.
  • No significant increase in bleeding score was observed in type 1 VWD subjects carrying the D1472H variation.

Conclusions:

  • The D1472H sequence variation is associated with altered VWF laboratory parameters but not increased bleeding in type 1 VWD.
  • This suggests D1472H may be a benign variant concerning bleeding risk, despite its effect on VWF assays.