Hemophilia A

What is Hemophilia A?

Hemophilia A is a rare genetic bleeding disorder where the blood lacks sufficient clotting factor VIII, a protein essential for blood clotting. This deficiency can lead to prolonged bleeding episodes even from minor injuries or spontaneously.

Side effects of Hemophilia A

Individuals with Hemophilia A may experience:

• Prolonged bleeding from cuts or injuries
• Easy bruising
• Bleeding into muscles and joints, causing pain and swelling
• Internal bleeding, particularly in vital organs, which can be life-threatening if not promptly treated

How is Hemophilia A diagnosed?

Diagnosis typically involves:

• Blood tests: Measuring clotting factor levels, specifically factor VIII activity.
• Family history: Checking for a family history of hemophilia.
• Genetic testing: Identifying the specific genetic mutation causing the disorder.

Potential treatment of Hemophilia A

Treatment aims to replace the missing clotting factor VIII and may include:

• Factor replacement therapy: Regular infusions of factor VIII concentrate to prevent or treat bleeding episodes.
• Desmopressin (DDAVP): Stimulates release of stored factor VIII in some cases of mild Hemophilia A.
• Gene therapy: Emerging as a potential long-term solution by introducing functional factor VIII genes into the body.
• Supportive care: Physical therapy and joint protection to manage complications from bleeding into joints.

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