Related Experiment Video
Updated: Oct 21, 2025
08:30
Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
Published on: August 14, 2017
11.4K
Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project
Almudena Pérez-Rodríguez1, Javier Batlle1, Joana Costa Pinto1
1Complexo Hospitalario Universitario A Coruña, INIBIC, A Coruña, Spain.
Haemophilia : the Official Journal of the World Federation of Hemophilia
|September 8, 2021
Summary
Type 2N von Willebrand disease (VWD) diagnosis requires careful evaluation to distinguish it from mild hemophilia A. Next-generation sequencing offers a cost-effective and accurate first-line diagnostic approach for this condition.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Type 2N von Willebrand disease (VWD) is characterized by reduced binding of von Willebrand factor (VWF) to factor VIII (FVIII).
- This abnormal binding leads to low FVIII levels, potentially causing misdiagnosis as mild hemophilia A.
- Accurate diagnosis is crucial for appropriate genetic counseling and treatment.
Purpose of the Study:
- To identify diagnostic and therapeutic challenges in type 2N VWD.
- To provide detailed descriptions of identified phenotypes and mutations.
Main Methods:
- Genetic analysis, including next-generation sequencing.
- In vitro assays to measure VWF:FVIIIB activity.
Main Results:
- Three type 2N mutations (p.Arg816Trp, p.Arg854Gln, p.Arg763Ser) were identified in 28 patients, with two being globally frequent.
- The observed mutational spectrum differs from that in neighboring regions.
- Clinical and laboratory data alone could misclassify asymptomatic carriers and severe phenotype patients.
Conclusions:
- Next-generation sequencing demonstrates high detection rates and affordability.
- This technology is recommended as a primary diagnostic tool for type 2N VWD.
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