Congenital factor V deficiency in a pediatric patient causing mild hemorrhage.

IF 1.6 4区医学 Q3 HEMATOLOGY

Hematology Pub Date : 2025-12-01 Epub Date: 2025-07-20 DOI:10.1080/16078454.2025.2529050

Haiyue Zhang, Jun Wu

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引用次数: 0

Abstract

Background and aims: This study aimed to elucidate the phenotype and genotype of a patient (9-year-old) with coagulation factor V (FV) deficiency to enhance our understanding of this specific disorder.

Methods: FV activity and antigen level were evaluated using a clotting assay and ELISA, respectively. Variations in the F5 gene were identified through DNA sequencing. The effects of the identified mutations on protein functionality were investigated using four bioinformatics tools: Expasy-ProtScale, ClustalX-2.1-win, Swiss-PdbViewer, and PyMol. These tools were applied to analyze hydrophobic properties, sequence conservation, and structural alterations.

Results: The proband presented with a prolonged activated partial thromboplastin time (APTT) and a bleeding tendency. His FV activity was reduced to 22% (reference range: 50-150%). Molecular analysis of the F5 gene identified two heterozygous variants in exons: c.1177A > G (p.Lys393Glu) and c.6665A > G (p.Asp2222Gly). In silico analysis predicted the potential deleterious effects of these mutations on FV protein function and structure.

Conclusion: This research identified two distinct variants in the F5 gene, including a novel variant (c.1177A > G/p.Lys393Glu). These findings elucidate the molecular mechanisms underlying the patient's FV deficiency and expand the mutational spectrum associated with this disorder.

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先天性因子V缺乏引起轻度出血的儿科患者。

背景与目的：本研究旨在阐明一名9岁凝血因子V （FV）缺乏症患者的表型和基因型，以提高我们对这种特殊疾病的认识。方法：分别采用凝血法和酶联免疫吸附法测定FV活性和抗原水平。通过DNA测序鉴定了F5基因的变异。利用Expasy-ProtScale、ClustalX-2.1-win、Swiss-PdbViewer和PyMol四种生物信息学工具研究了鉴定出的突变对蛋白质功能的影响。这些工具被用于分析疏水性、序列保守性和结构改变。结果：先证患者表现为活化的部分凝血活素时间（APTT）延长和出血倾向。他的FV活动降低到22%（参考范围：50-150%）。F5基因的分子分析在外显子上发现了两个杂合变异体：c.1177A > G （p.Lys393Glu）和c.6665A > G （p.Asp2222Gly）。计算机分析预测了这些突变对FV蛋白功能和结构的潜在有害影响。结论：本研究在F5基因中发现了两个不同的变异，包括一个新的变异（c.1177A > G/p.Lys393Glu）。这些发现阐明了患者FV缺陷的分子机制，并扩大了与该疾病相关的突变谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Hematology 医学-血液学

CiteScore

2.60

自引率

5.30%

发文量

140

审稿时长

3 months

期刊介绍： Hematology is an international journal publishing original and review articles in the field of general hematology, including oncology, pathology, biology, clinical research and epidemiology. Of the fixed sections, annotations are accepted on any general or scientific field: technical annotations covering current laboratory practice in general hematology, blood transfusion and clinical trials, and current clinical practice reviews the consensus driven areas of care and management.