Prevalence of factor V Leiden and prothrombin G20210A mutations in Chinese patients with deep venous thrombosis and pulmonary embolism

SummaryWe have identified a novel heterozygous fibrinogen γ chain mutation, γN345S (Fibrinogen Saint-Germain II), in a subject with hypofibrinogenemia. There was no evidence by mass spectrometry of plasma fibrinogen containing the mutant chain. The hypofibrinogenemia was discovered in a 26-year-old man who experienced extensive deep venous thrombosis of the left leg associated with pulmonary embolism. Investigation of potential thromboembolic risk factors revealed heterozygosity of the factor V R506Q mutation (factor V Leiden) and heterozygosity of the prothrombin gene G20210A mutation. The hypofibrinogenemia may be contributory to the thrombophilic manifestations.

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Deep venous thrombosis or pulmonary embolism and factor V Leiden: enigma or paradox

Haematologica ◽

10.3324/haematol.2010.023432 ◽

2010 ◽

Vol 95 (6) ◽

pp. 863-866 ◽

Cited By ~ 13

Author(s):

J. Corral ◽

V. Roldan ◽

V. Vicente

Keyword(s):

Pulmonary Embolism ◽

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Factor V Leiden ◽

Factor V

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Pulmonary embolism and deep venous thrombosis during pregnancy or oral contraceptive use: Prevalence of factor V Leiden

American Heart Journal ◽

10.1016/s0002-8703(96)90089-7 ◽

1996 ◽

Vol 131 (6) ◽

pp. 1145-1148 ◽

Cited By ~ 55

Author(s):

Denise R. Hirsch ◽

Katriina M. Mikkola ◽

Peter W. Marks ◽

Edward A. Fox ◽

David M. Dorfman ◽

...

Keyword(s):

Pulmonary Embolism ◽

Oral Contraceptive ◽

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Contraceptive Use ◽

Factor V Leiden ◽

Factor V ◽

Oral Contraceptive Use

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A Case Control Study on the Contribution of Factor V-Leiden, Prothrombin G20210A, and MTHFR C677T Mutations to the Genetic Susceptibility of Deep Venous Thrombosis

Journal of Thrombosis and Thrombolysis ◽

10.1007/s11239-005-1313-x ◽

2005 ◽

Vol 19 (3) ◽

pp. 189-196 ◽

Cited By ~ 36

Author(s):

Wassim Y. Almawi ◽

Hala Tamim ◽

Raghid Kreidy ◽

Georgina Timson ◽

Elias Rahal ◽

...

Keyword(s):

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Genetic Susceptibility ◽

Case Control Study ◽

Factor V Leiden ◽

Mthfr C677t ◽

Case Control ◽

Prothrombin G20210a ◽

Factor V ◽

Control Study

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Combined Factor V Leiden (R506Q) and prothrombin G20210A genotyping in young patients presenting with deep venous thrombosis

Phlebology The Journal of Venous Disease ◽

10.1258/026835506775971171 ◽

2006 ◽

Vol 21 (1) ◽

pp. 24-27 ◽

Cited By ~ 2

Author(s):

A Mansilha ◽

F Araújo ◽

M Severo ◽

S M Sampaio ◽

T Toledo ◽

...

Keyword(s):

Risk Factor ◽

Young People ◽

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Young Patients ◽

Factor V Leiden ◽

First Episode ◽

Control Group ◽

Factor V ◽

Factor V Leiden Mutation

Objective: To evaluate the association between the Factor V Leiden (FV R506Q) and prothrombin gene (FII G20210A) mutations and deep venous thrombosis (DVT) in young people. Methods: Blood samples were drawn from 199 subjects: 100 healthy controls and 99 unselected patients, with an objectively documented first episode of DVT under 40 years old. DNA analysis was performed using the polymerase chain reaction. Results: The mean age in the patient cohort was 27 years (range 16–40) and 68 (68.7%) were women. Patient prevalences were 20.6% and 10.1% for FV R506Q and FII G20210A, respectively. In the control group, carrier frequencies were 2% and 5%, respectively. We found an increased overall relative risk of DVT with statistical significance for FV R506Q carriers (OR: 12.8; 95% CI: 2.9–56.7; P < 0.001), but not for FII G20210A mutation (OR: 2.1; 95% CI: 0.7–6.5; P = 0.19). Conclusions: Our results suggest a possible increase in DVT risk for the young G20210A allele carriers, which can be more expressed in the presence of a circumstantial risk factor. There is extremely strong evidence that the Factor V Leiden mutation is an important risk factor in the development of a first episode of DVT in young people.

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