Factor V Kuwait: A Novel Mutation in the Coagulation Factor V Gene Discovered in Kuwait

• Published in: Medical principles and practice Vol. 15; no. 2; pp. 102 - 105
• Main Authors: Jadaon, Mehrez M., Dashti, Ali A., Lewis, Hend L.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland 01.01.2006
• Subjects: Arabs; Electrophoresis, Agar Gel; Factor V - genetics; Haplotypes; Humans; Kuwait; Original Paper; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Venous Thrombosis - genetics; Kuwait; Factor V Kuwait; Restriction fragment length polymorphism; Venous thromboembolic disorder
• ISSN: 1011-7571; 1423-0151
• DOI: 10.1159/000090912

Objective: It was the aim of this study to report a new point mutation in the clotting factor V gene in the general Arab population. Subjects and Methods: The HR2 haplotype was tested in 288 Arabs living in Kuwait – 188 patients with venous thromboembolic disorders (VTE) and 100 healthy subjects – using polymerase chain reaction and restriction fragment length polymorphism techniques. The presence of the new mutation was verified by DNA sequencing. Results: Two (1.06%) VTE patients had guanine instead of the wild-type adenine at nucleotide number 3935 (A3935G) of the factor V gene. This mutation caused a histidine to arginine change in amino acid number 1254 of the factor V molecule. The new mutation is termed ‘factor V Kuwait’ (His1254Arg) and was absent in the 100 healthy subjects. Conclusion: It appears that factor V Kuwait could be a risk factor for developing VTE in Arabs. A larger study is needed to confirm this observation.