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

Rosanna Asselta, Claudia Dall'Osso, Stefano Duga, Marta Spreafico, Renu Saxena, Maria Luisa Tenchini

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1724-1726
Number of pages3
JournalHaematologica
Volume91
Issue number12
Publication statusPublished - Dec 2006

Keywords

  • Coagulation factor V
  • Factor V deficiency
  • Gene analysis
  • Mutation

ASJC Scopus subject areas

  • Hematology

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    Asselta, R., Dall'Osso, C., Duga, S., Spreafico, M., Saxena, R., & Tenchini, M. L. (2006). Coagulation factor V gene analysis in five Indian patients: Identification of three novel small deletions. Haematologica, 91(12), 1724-1726.