Hemophilia B: Symptoms, Signs, and Causes

Diagnosis and Testing for Hemophilia B. Diagnosing Hemophilia B involves a series of blood tests to measure the level of clotting factor IX. If Hemophilia B is suspected, a clotting assay called a factor IX activity test is performed to determine the amount and functionality of factor IX in the blood. Genetic testing can confirm the diagnosis by identifying mutations in the F9 gene. Early diagnosis, particularly in newborns with a family history of Hemophilia B, is essential to prevent complications and initiate appropriate treatment.