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

Congenital Factor V (FV) deficiency is a rare bleeding disorder that inherit inautosomal recessive manner. Diagnosis of FV deficiency (FVD) is made byroutine coagulation tests, FV activity and molecular analysis. In patients withFVD, routine coagulation tests including activated partial thromboplastin time(APTT), prothrombin time (PT), and even bleeding time (BT) are prolongedwhile thrombin time (TT) is normal. FV activity assay can use forconfirmation of diagnosis as well as for differential diagnosis with acquiredforms of disease. Mixing study can be used for screening of inhibitor againstFV. In this situation, addition of normal plasma cannot correct prolonged PTand PTT while in congenital FVD prolongation is corrected. Moleculardiagnosis of FVD is straight forward but due to large size of FV gene andgenetic variability molecular diagnosis is restricted to research laboratory.

Keywords:

Factor V deficiency , Diagnosis , rare bleeding disorder