Factor V Deficiency

Common Name(s)

Factor V Deficiency

Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe.  Factor V deficiency is inherited in an autosomal recessive manner, which means that both copies of the F5 gene in each cell have mutations.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Factor V Deficiency" for support, advocacy or research.

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The Haemophilia Society

To ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities To enable people affected by bleeding disorders to better understand and manage their condition or situation. To enable people affected by bleeding disorders to participate in decision making and service delivery. To influence policy and improve services to people with bleeding disorders.

Last Updated: 3 Apr 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Factor V Deficiency" for support, advocacy or research.

Logo
The Haemophilia Society

To ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities To enable people affected by bleeding disorders to better understand and manage their condition or situation. To enable people affected by bleeding disorders to participate in decision making and service delivery. To influence policy and improve services to people with bleeding disorders.

http://www.haemophilia.org.uk/

Last Updated: 3 Apr 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Factor V Deficiency" returned 47 free, full-text research articles on human participants. First 3 results:

Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation.
 

Author(s): Francesca Nuzzo, Claudia Radu, Marco Baralle, Luca Spiezia, Tilman M Hackeng, Paolo Simioni, Elisabetta Castoldi

Journal: Blood. 2013 Nov;122(23):3825-31.

 

Antisense molecules are emerging as a powerful tool to correct splicing defects. Recently, we identified a homozygous deep-intronic mutation (F5 c.1296+268A>G) activating a cryptic donor splice site in a patient with severe coagulation factor V (FV) deficiency and life-threatening ...

Last Updated: 29 Nov 2013

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[Acquired combined deficiency of Factor V and VIII].
 

Author(s): Naziha Khammassi, Dorsaf Mohsen, Haykel Abdelhedi, Ouahida Cherif

Journal: Tunis Med. 2013 Apr;91(4):291-2.

 

Last Updated: 15 May 2013

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Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency.
 

Author(s): Elmahmoudi Hejer, Laatiri Med Adnen, Jlizi Asma, Makhlouf Ibtihel, Amel Benammar-Elgaaied, Emna Gouider

Journal: Tunis Med. 2012 Apr;90(4):343-4.

 

Last Updated: 26 Apr 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Factor V Deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Factor V deficiency in a patient with rheumatoid arthritis.
 

Author(s): F Omata, Y Ichikawa, H Nozaki, H Nomoto, S Arimori

Journal: Jpn. J. Med.. ;30(2):157-60.

 

Factor V deficiency associated with rheumatoid arthritis was found in a 54-year-old woman. Hereditary factor V deficiency is very rare; only about 150 cases have been reported since its discovery in 1943. This appears to be the first case report of factor V deficiency associated with ...

Last Updated: 11 Sep 1991

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.