Laboratory Diagnosis of Congenital Factor V Deficiency, Routine, Specific Coagulation Tests with Molecular Methods

• Main Authors: Shadi Tabibian, Ahmad Kazemi, Akbar Dorgalaleh
• Format: Article
• Language: English
• Published: Shahid Beheshti University of Medical Sciences 2016-03-01
• Series: Journal of Cellular and Molecular Anesthesia
• Subjects: Factor V deficiency, Diagnosis, rare bleeding disorder
• Online Access: http://journals.sbmu.ac.ir/jcma/article/view/10790

<p><strong>Erratum: </strong>The correct affiliation of corresponding author of this manuscript has been edited as follows:</p><p>"Akbar Dorgalaleh: Department of Hematology and Blood Transfusion, School of Allied Medical Sciences, Iran University of Medical Sciences, Tehran, Iran."</p><p>Factor V (FV) deficiency is a rare bleeding disorder (RBD) that inherit in autosomal recessive manner. Diagnosis of FV deficiency (FVD) is made by routine coagulation tests, FV activity and molecular analysis. In patients with FVD, routine coagulation tests including activated partial thromboplastin time (APTT), prothrombin time (PT) and evenbleeding time (BT) are prolongedwhile thrombin time (TT) is normal. FV activity assay can use for confirmation of diagnosis as well as for differential diagnosis with acquired forms of disease. Mixing study can be used for screening of inhibitor against FV. In this situation, addition of normal plasma cannot correct prolonged PT and PTT while in congenital FVD prolongation is corrected. Molecular diagnosis of FVD is straightforward but due to large size of FV gene and genetic variability molecular diagnosis is restricted to research laboratory.</p>