Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Department of Hematology and Immunohematology, College of Medical Laboratory Science, Sudan University of Science and Technology, Khartoum, Sudan.
J Med Life. 2023 Mar;16(3):428-433. doi: 10.25122/jml-2022-0276.
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.
血管性血友病因子（VWF）是一种在止血中起关键作用的血浆糖蛋白。该蛋白的突变可导致血管性血友病（VWD），这是人类最常见的出血性疾病形式。1 型 VWD 患者存在正常结构和功能 VWF 的血浆含量定量缺乏。我们的研究旨在研究沙特阿拉伯东部 1 型 VWD 患者的表型和基因型特征，重点关注外显子 28。我们纳入了先前在 Al Khobar 的法赫德国王教学医院被诊断为 WWD 1 型的患者及其家属。使用统计软件（SPSS）版本 21 分析了各种表型数据与基因型（外显子 28）之间的相关性。虽然这些变体通常被认为是良性的，具有较小的临床影响，但我们的分析确实确定了两种可能导致严重 VWD 症状的致病性变体。具体来说，我们在来自沙特阿拉伯的三名 VWD 患者中发现了这两种致病性变体，为该人群中的致病性 VWD 突变提供了重要的见解。因此，我们的研究揭示了王国东部省份 VWF 变体的流行情况，并强调需要继续研究该地区 VWD 的遗传原因。
