How is hemophilia B diagnosed?

Blood tests: If patients experience symptoms of hemophilia B or factor IX deficiency, such as prolonged bleeding or excessive bruising, doctors may diagnose the condition by performing a blood test. A doctor will remove, or draw, a small amount of blood and check for the presence of clotting factor IX. If it is missing or found at very low levels, a diagnosis of hemophilia B can be made.

Additional tests can be performed on blood samples in the laboratory to measure whether clotting is abnormally slow. This is done by simply observing how long it takes for drawn blood to form a clot. Blood tests may also be performed on a developing fetus or after birth.

Another clotting factor that might be measured in the blood in order to make an accurate diagnosis is fibrinogen, which is found at abnormal levels in patients with hemophilia B.

Partial thromboplastin time (PTT) is a blood test that measures how long it takes for blood to clot. PTT is prolonged in patients with hemophilia B.

Genetic testing: Mutations in clotting factor genes are known to cause hemophilia B. Mutations that may occur in clotting factor genes include inversions (a reverse in the gene orientation) and partial or complete gene deletions (missing genes). Genetic tests can be used to check for these mutations, to diagnose hemophilia B, and to identify carriers of the mutation. These tests may be used to confirm a diagnosis if there is a family history of hemophilia B or if symptoms are present. Prenatal testing for hemophilia B is under development.

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