laboratory diagnosis of congenital factor v deficiency, routine, specific coagulation tests with molecular methods

Molecular and Clinical Characterization of 7 Iranian Patients with Severe Congenital Factor V Deficiency: Identification of 4 Novel Mutations

Background and Aims: Congenital factor V (FV) deficiency is a rare bleeding disorder with 1 in 1000000 persons in the general population. Individuals with FV activity <1% and very low FV antigen levels are characterized as severe FV deficient patients. Little data is available about the molecular basis of this bleeding disorder in Iran. Materials and Methods: We analyzed 7 unrelated Iranian FV...

Indirect Molecular Diagnosis of Congenital Factor ΧІІІ Deficiency by Candidate Microsatellites and Single Nucleotide Polymorphisms

Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutati...

A Pregnant Woman with Factor V Deficiency

Coagulation Factor XII Congenital Deficiency in Women with Recurrent Miscarriage

Factor XII (Hageman factor) is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation and fibrinolysis and kinin formation. It is still unclear whether factor XII deficiency causes any disorders during pregnancy. Because the main clinical feature in patients with factor XII deficiency is thrombosis rather than bleeding, low dose aspirin wou...

FACTOR V AND VIII INHIBITOR IN PATIENTS WITH COMBINED FACTOR V AND VIII DEFICIENCY

Patients with coagulation factor(s) deficiency who use coagulation therapy are susceptible to forming inhibitors against coagulation factor(s). In this survey we detected factor V and VIII inhibitor in ten patients with combined deficiency of factors V and VIII from north east of Iran (Khorassan province). It was revealed in our survey that eight patients had both factor V and factor VIII i...

A case of congenital factor V deficiency.

A case of Factor V deficiency, the first case in Korea, is reported in a 9-year-old boy whose plasma concentration of Factor V was 6%. He complained of easy bruisability, prolonged bleeding from the mouth after minor trauma and hemarthrosis and flexion contracture of the right knee. His parents are heterozygous (maternal Factor V concentration 52%, paternal 40%).