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Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency

¹ Department of Biochemistry and Molecular Biology, Ferrara University, Italy
² Department of Experimental and Diagnostic Medicine, Section of Anatomic Pathology, Ferrara University, Italy
³ The National Hemophilia Center, Institute of Hematology and Blood Transfusion, University Hospital, Bratislava, Slovakia Funding: this work was supported by grants from Telethon Italy grant (GGP05214), the Italian Ministry of Education (MIUR), Fondazione CARIFE and funding from the University of Ferrara. Key words: FV deficiency, FV mRNA, FV mutations, hemostasis, coagulation

Correspondence: Francesco Bernardi, via Fossato di Mortara 74, I-44100, Ferrara, Italy. Phone: international +39.0532.974425. Fax: international +39.0532 974484. E-mail: ber{at}unife.it

We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects, and correction for nonsense mediated decay, suggested the presence of 0.1% of normal factor V mRNA.