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Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia

Von Willebrand factor (VWF) is a plasma glycoprotein that plays a key role in hemostasis. Mutations in this protein can result in von Willebrand disease (VWD), the most common form of bleeding disorder in humans. Patients with type 1 VWD have a quantitative plasmatic deficiency of normal structural...

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Autores principales: Alzahrani, Faisal Mousa, Al Faris, Asma Abdulrazaq, Shaikh, Saeed Sattar, Hassan, Fathelrahman Mahdi, Aldossary, Maryam Ahmed, Al Sultan, Osama, Elhadi, Nasreldin, Alabsi, Sulaiman Salman, Alsahli, Mohammed, Bashawri, Layla Abdulmohsen, Muzaheed, Muzaheed, Goodeve, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Carol Davila University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10165513/
https://www.ncbi.nlm.nih.gov/pubmed/37168293
http://dx.doi.org/10.25122/jml-2022-0276
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author Alzahrani, Faisal Mousa
Al Faris, Asma Abdulrazaq
Shaikh, Saeed Sattar
Hassan, Fathelrahman Mahdi
Aldossary, Maryam Ahmed
Al Sultan, Osama
Elhadi, Nasreldin
Alabsi, Sulaiman Salman
Alsahli, Mohammed
Bashawri, Layla Abdulmohsen
Muzaheed, Muzaheed
Goodeve, Anne
author_facet Alzahrani, Faisal Mousa
Al Faris, Asma Abdulrazaq
Shaikh, Saeed Sattar
Hassan, Fathelrahman Mahdi
Aldossary, Maryam Ahmed
Al Sultan, Osama
Elhadi, Nasreldin
Alabsi, Sulaiman Salman
Alsahli, Mohammed
Bashawri, Layla Abdulmohsen
Muzaheed, Muzaheed
Goodeve, Anne
author_sort Alzahrani, Faisal Mousa
collection PubMed
description Von Willebrand factor (VWF) is a plasma glycoprotein that plays a key role in hemostasis. Mutations in this protein can result in von Willebrand disease (VWD), the most common form of bleeding disorder in humans. Patients with type 1 VWD have a quantitative plasmatic deficiency of normal structural and functional VWF. Our study aimed to investigate the phenotypic and genotypic characteristics of VWD type 1 patients in eastern Saudi Arabia, focusing on exon 28. We included patients previously diagnosed with WWD type 1 at the King Fahad teaching hospital in Al Khobar and their family members. The correlations between various phenotypic data and genotypic (exon 28) were analyzed using statistical software (SPSS) version 21. While these variants were generally considered benign with minor clinical effects, our analysis did identify two pathogenic variants that could lead to severe VWD symptoms. Specifically, we found these two pathogenic variants in three VWD patients from Saudi Arabia, providing essential insights into pathogenic VWD mutations in this population. Our study, therefore, sheds light on the prevalence of VWF variants in the eastern province of the Kingdom and highlights the need for continued research into the genetic causes of VWD in this region.
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spelling pubmed-101655132023-05-09 Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia Alzahrani, Faisal Mousa Al Faris, Asma Abdulrazaq Shaikh, Saeed Sattar Hassan, Fathelrahman Mahdi Aldossary, Maryam Ahmed Al Sultan, Osama Elhadi, Nasreldin Alabsi, Sulaiman Salman Alsahli, Mohammed Bashawri, Layla Abdulmohsen Muzaheed, Muzaheed Goodeve, Anne J Med Life Original Article Von Willebrand factor (VWF) is a plasma glycoprotein that plays a key role in hemostasis. Mutations in this protein can result in von Willebrand disease (VWD), the most common form of bleeding disorder in humans. Patients with type 1 VWD have a quantitative plasmatic deficiency of normal structural and functional VWF. Our study aimed to investigate the phenotypic and genotypic characteristics of VWD type 1 patients in eastern Saudi Arabia, focusing on exon 28. We included patients previously diagnosed with WWD type 1 at the King Fahad teaching hospital in Al Khobar and their family members. The correlations between various phenotypic data and genotypic (exon 28) were analyzed using statistical software (SPSS) version 21. While these variants were generally considered benign with minor clinical effects, our analysis did identify two pathogenic variants that could lead to severe VWD symptoms. Specifically, we found these two pathogenic variants in three VWD patients from Saudi Arabia, providing essential insights into pathogenic VWD mutations in this population. Our study, therefore, sheds light on the prevalence of VWF variants in the eastern province of the Kingdom and highlights the need for continued research into the genetic causes of VWD in this region. Carol Davila University Press 2023-03 /pmc/articles/PMC10165513/ /pubmed/37168293 http://dx.doi.org/10.25122/jml-2022-0276 Text en ©2023 JOURNAL of MEDICINE and LIFE https://creativecommons.org/licenses/by/3.0/This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/ (https://creativecommons.org/licenses/by/3.0/) ), which permits unrestricted use and redistribution provided that the original author and source are credited.
spellingShingle Original Article
Alzahrani, Faisal Mousa
Al Faris, Asma Abdulrazaq
Shaikh, Saeed Sattar
Hassan, Fathelrahman Mahdi
Aldossary, Maryam Ahmed
Al Sultan, Osama
Elhadi, Nasreldin
Alabsi, Sulaiman Salman
Alsahli, Mohammed
Bashawri, Layla Abdulmohsen
Muzaheed, Muzaheed
Goodeve, Anne
Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia
title Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia
title_full Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia
title_fullStr Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia
title_full_unstemmed Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia
title_short Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia
title_sort phenotypic and genotypic (exon 28) characterization of patients diagnosed with von willebrand disease type 1 in eastern saudi arabia
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10165513/
https://www.ncbi.nlm.nih.gov/pubmed/37168293
http://dx.doi.org/10.25122/jml-2022-0276
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