How is hemophilia diagnosed?

Hemophilia is a hereditary bleeding disorder characterized by impaired blood coagulation function. It is usually examined and diagnosed through the following steps: 1. Preliminary examination: Perform a complete blood count (CBC), including red blood cell, white blood cell, and platelet counts, to rule out other blood disorders. 2. Coagulation function tests: Focus on whether clotting time is prolonged and whether activated partial thromboplastin time (APTT) is abnormal. 3. Specific tests: Such as kaolin partial thromboplastin generation test (KPTT) and simplified thromboplastin generation correction test (simplified TGT), which help further determine the type of hemophilia. 4. Factor VIII activity assay: The normal value should be above 60%. A level below this indicates reduced Factor VIII activity, which may be a sign of Hemophilia A. 5. Genetic testing: Examine for the presence of gene mutations associated with hemophilia using techniques such as PCR analysis. This is particularly important for confirming heredity and predicting the risk in offspring.