Factor vii deficiency

Factor VII Deficiency is a rare blood disorder characterized by the body's inability to properly form blood clots. This condition is caused by a deficiency in a protein known as Factor VII, which plays a crucial role in the coagulation cascade, a series of chemical reactions that lead to the formation of a blood clot.

Causes

Factor VII Deficiency is usually caused by mutations in the F7 gene, which provides instructions for making Factor VII. These mutations can either reduce the amount of Factor VII produced or affect the function of the protein. This condition is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.

Symptoms

The symptoms of Factor VII Deficiency can vary greatly among affected individuals. Some people may experience severe bleeding episodes, while others may have no symptoms at all. Common symptoms include nosebleeds, gum bleeding, easy bruising, and prolonged bleeding after injury or surgery. Women with this condition may experience heavy menstrual bleeding or excessive bleeding after childbirth.

Diagnosis

Diagnosis of Factor VII Deficiency typically involves blood tests to measure the amount and activity of Factor VII. Genetic testing may also be performed to identify mutations in the F7 gene.

Treatment

Treatment for Factor VII Deficiency typically involves replacing the missing Factor VII. This can be done through infusions of plasma-derived Factor VII or recombinant Factor VII. In some cases, medications may be used to stimulate the production of Factor VII.

See also

• Blood clot
• Coagulation
• Hemophilia

Factor vii deficiency Resources
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