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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Carol Davila University Press
2023
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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. |
format | Online Article Text |
id | pubmed-10165513 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Carol Davila University Press |
record_format | MEDLINE/PubMed |
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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