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

Abstract

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.

Reply

“…We would like to thank Castoldi et al [1] for their valuable comments on our previously published article describing a novel mutation in the clotting factor V gene found in 2 Arab patients with venous thrombosis who were living in Kuwait [factor V Kuwait (FVK) mutation or FV H1254R polymorphism] [2]. As stated by Castoldi et al [1], the FVK mutation is a very rare one.…”

Aetiology of Venous Thrombosis

“…Other mutations in the factor V gene were later identified, including Factor V Cambridge (Arg306Thr) (Williamson et al, 1998), Factor V Hong Kong (Arg306Gly) (Chan et al, 1998), Factor V Liverpool (Ile359Thr) (Mumford et al, 2003), and Factor V Kuwait (His1254Arg) (Jadaon et al, 2006). The number of cases reported to have these mutations were small and the relationship with VTE could not be well established like FVL, although many of these cases were reported in patients with VTE.…”