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@article{2252390,
author = {Vangenechten, Inge and Smejkal, Petr and Zavrelova, Jiri and Zapletal, Ondřej and Wild, Alexander and Michiels, Jan Jacques and Berneman, Zwi and Blatný, Jan and Batorova, Angelika and Prigancova, Tatiana and Penka, Miroslav and Gadisseur, Alain},
article_location = {Stuttgart},
article_number = {06},
doi = {http://dx.doi.org/10.1055/s-0042-1757635},
keywords = {classification; genotype; phenotype; von Willebrand disease; von Willebrand factor},
language = {eng},
issn = {2567-3459},
journal = {TH open: companion journal to thrombosis and haemostasis},
title = {Analysis of von Willebrand Disease in the “Heart of Europe”},
url = {https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0042-1757635},
volume = {2022},
year = {2022}
}
TY - JOUR
ID - 2252390
AU - Vangenechten, Inge - Smejkal, Petr - Zavrelova, Jiri - Zapletal, Ondřej - Wild, Alexander - Michiels, Jan Jacques - Berneman, Zwi - Blatný, Jan - Batorova, Angelika - Prigancova, Tatiana - Penka, Miroslav - Gadisseur, Alain
PY - 2022
TI - Analysis of von Willebrand Disease in the “Heart of Europe”
JF - TH open: companion journal to thrombosis and haemostasis
VL - 2022
IS - 06
SP - "e335"-"e346"
EP - "e335"-"e346"
PB - Thieme
SN - 25673459
KW - classification
KW - genotype
KW - phenotype
KW - von Willebrand disease
KW - von Willebrand factor
UR - https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0042-1757635
N2 - Background von Willebrand disease (VWD) is a genetic bleeding disorder caused by defects of von Willebrand factor (VWF), quantitative (type 1 and 3) or qualitative (type 2). The laboratory phenotyping is heterogenic making diagnosis difficult. Objectives Complete laboratory analysis of VWD as an expansion of the previously reported cross-sectional family-based VWD study in the Czech Republic (BRNO-VWD) and Slovakia (BRA-VWD) under the name “Heart of Europe,” in order to improve the understanding of laboratory phenotype/genotype correlation. Patients and Methods In total, 227 suspected VWD patients were identified from historical records. Complete laboratory analysis was established using all available assays, including VWF multimers and genetic analysis. Results A total of 191 patients (from 119 families) were confirmed as having VWD. The majority was characterized as a type 1 VWD, followed by type 2. Multimeric patterns concordant with laboratory phenotypes were found in approximately 83% of all cases. A phenotype/genotype correlation was present in 84% (77% type 1, 99% type 2, and 61% type 3) of all patients. Another 45 candidate mutations (23 novel variations), not found in the initial study, could be identified (missense 75% and truncating 24%). An exon 1–3 gene deletion was identified in 14 patients where no mutation was found by direct DNA sequencing, increasing the linkage up to 92%, overall. Conclusion This study provides a cross-sectional overview of the VWD population in a part of Central Europe. It is an addition to the previously published BRNO-VWD study, and provides important data to the International Society of Thrombosis and Haemostasis/European Association for Haemophilia and Allied Disorders VWD mutation database with identification of novel causal mutations.
ER -
VANGENECHTEN, Inge, Petr SMEJKAL, Jiri ZAVRELOVA, Ondřej ZAPLETAL, Alexander WILD, Jan Jacques MICHIELS, Zwi BERNEMAN, Jan BLATNÝ, Angelika BATOROVA, Tatiana PRIGANCOVA, Miroslav PENKA a Alain GADISSEUR. Analysis of von Willebrand Disease in the “Heart of Europe”. \textit{TH open: companion journal to thrombosis and haemostasis}. Stuttgart: Thieme, 2022, roč.~2022, č.~06, s.~''e335''-''e346'', 12 s. ISSN~2567-3459. Dostupné z: https://dx.doi.org/10.1055/s-0042-1757635.
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