Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Coagulation factor 5

The gene encodes a crucial coagulation factor, which when deficient causes a serious bleeding disorder, but if the cleavage site is altered, then its inactivation is impossible, which results in untameable coagulation, an increased risk of thrombosis.

Epidemiology

The mutation factor V Leiden is of European origin. About 5% of the population in these countries is heterozygous. In Africa and Asia this mutation is rare. There are no broad statistical data concerning the other mutations of this gene.

Gene Structure

The gene F5 is about 70kb in size. It is located on Chromosome 1 (1q23). It consists of 25 exons.

Protein Structure

The structure is similar to coagulation factor VIII. We have the same domains (A1-A2-B-A3-C1-C2). The B domain is very much glycosilated.

Phenotype

The clinical picture depends on the type of mutation. If mutation results in thrombophilia we find thromboembolic diseases early in life. Characteristically the thrombosis might occur in atypical localizations. An influence on the development of cardiovascular disease is discussed too.

Pathology

Mutations in this coagulation factor can cause either hemophilia or thrombophilia.

Test Strategy

Patients suspected to have thrombophilia. Family screening.

Interpretation

The mutation factor V Leiden increases the annual risk for venous thrombosis up to 3 times in case of heterozygosity. In homozygous carriers the risk is about 28 times increased.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 20
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Thromboembolic diseases
Autosomal dominant protein C deficiency
PROC
Autosomal dominant protein S deficiency
PROS1
Autosomal recessive protein C deficiency
PROC
Autosomal recessive protein S deficiency
PROS1
F2
F5
Factor XII deficiency
F12
HABP2
Hypoplasminogenemia
Dysplasminogenemia
PLG
Hypoplasminogenemia
PLG
MTHFR
PAI transcription modulator
SERPINE1
Protein Z deficiency
PROZ
SERPINA10
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
SERPIND1
VKORC1

References:

1.

Lee R et al. (2001) Factor V Leiden: a clinical review.

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Update: Sept. 26, 2018