Health A-Z

Hemophilia A is a genetic disorder characterized by a deficiency in clotting factor VIII, which results in prolonged bleeding and impaired blood clotting. Here's an overview of its symptoms, treatment plan, diagnosis, and testing.

1. Prolonged bleeding: Individuals with hemophilia A may experience prolonged bleeding after minor injuries, surgery, or dental procedures.
2. Easy bruising: Excessive bruising or bruising without apparent cause may occur.
3. Joint pain and swelling: Bleeding into the joints (hemarthrosis) can cause pain, swelling, and limited range of motion, particularly in weight-bearing joints such as the knees, ankles, and elbows.
4. Muscle bleeds: Bleeding into muscles can cause pain, swelling, and reduced mobility.
5. Excessive bleeding: Bleeding may occur internally, into organs or tissues, causing symptoms such as abdominal pain, swelling, or neurological symptoms.

1. Replacement therapy: The mainstay of treatment for hemophilia A involves replacing the deficient clotting factor VIII through intravenous infusions of recombinant factor VIII concentrate or plasma-derived factor VIII products.
2. Prophylactic treatment: Some individuals with severe hemophilia A may receive regular infusions of clotting factor concentrates to prevent bleeding episodes.
3. On-demand treatment: Infusions of clotting factor VIII are administered as needed to treat bleeding episodes or before invasive procedures.
4. Desmopressin (DDAVP): This medication stimulates the release of stored factor VIII in some individuals with mild or moderate hemophilia A.
5. Gene therapy: Emerging therapies involve gene transfer techniques to introduce functional factor VIII genes into the body, potentially offering a long-term or permanent cure for hemophilia A.

1. Medical history and physical examination: A healthcare provider will inquire about symptoms, family history, and any previous bleeding episodes.
2. Clotting factor assays: Blood tests can measure the levels of clotting factor VIII activity in the blood. A low level of factor VIII activity confirms the diagnosis of hemophilia A.
3. Genetic testing: Genetic analysis can identify mutations in the F8 gene responsible for hemophilia A, confirming the diagnosis and providing information about the type and severity of the condition.
4. Joint imaging: X-rays or magnetic resonance imaging (MRI) may be performed to evaluate joint damage or assess the extent of bleeding into the joints.
5. Bleeding evaluation: A comprehensive assessment of bleeding symptoms, including frequency, severity, and location of bleeding episodes, helps guide treatment decisions and monitoring.