Factor I deficiency

Factor I deficiency is a rare blood disorder that is characterized by an increased risk of bleeding and bruising. This condition is caused by a deficiency of a protein called Factor I, also known as fibrinogen, which is necessary for blood clotting.

Causes

Factor I deficiency is caused by mutations in the FGA, FGB, or FGG genes. These genes provide instructions for making the three different chains of the fibrinogen protein. Mutations in any of these genes disrupt the normal formation of the fibrinogen protein, leading to a deficiency of this protein and an increased risk of bleeding.

Symptoms

The symptoms of Factor I deficiency can vary widely, from mild to severe. They may include:

• Easy bruising
• Prolonged bleeding after injury, surgery, or childbirth
• Nosebleeds
• Heavy or prolonged menstrual periods
• Blood in the urine or stool
• Unexplained bleeding

Diagnosis

Factor I deficiency is diagnosed through a series of blood tests. These tests measure the amount of fibrinogen in the blood and how well it functions. Genetic testing may also be used to identify mutations in the FGA, FGB, or FGG genes.

Treatment

Treatment for Factor I deficiency is aimed at controlling bleeding episodes and preventing bleeding complications. This may include:

• Blood transfusions
• Infusions of fibrinogen concentrate
• Medications to help control bleeding

See also

• Blood clot
• Coagulation
• Hemophilia

References

Factor I deficiency Resources
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