Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions

Congenital factor V (FV) deficiency is a rare coagulopathy associated with moderate to severe bleeding symptoms. A total of 34 mutations, all located in the FV gene (F5), have been described in patients with severe FV deficiency, only eight of them being of Asian descent. Sequencing of F5 in five unrelated Indian patients identified three novel small deletions in exon 13, all present in the homozygous state (g.50936-50937delAA or AG and g.51660delA, both occurring in two different patients, and g.52162delC). Besides widening the knowledge on the mutational spectrum of FV deficiency in Asian populations, these data will also be useful for purposes of prenatal diagnosis.

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				C. Dall'Osso, I. Guella, S. Duga, N. Locatelli, E. M. Paraboschi, M. Spreafico, A. Afrasiabi, C. Pechlaner, F. Peyvandi, M. L. Tenchini, et al. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern Haematologica, October 1, 2008; 93(10): 1505 - 1513. [Abstract] [Full Text] [PDF]