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How Is Hemophilia Diagnosed? Key Tests and Procedures
Published: Aug 04, 2024
Diagnosing hemophilia involves a series of blood tests and genetic testing to confirm the condition. This article explains the key tests used in the diagnosis process.
Initial Screening Tests
The first step in diagnosing hemophilia is conducting screening tests such as the prothrombin time (PT), activated partial thromboplastin time (aPTT), and platelet count. In hemophilia, the aPTT is typically prolonged, indicating a clotting factor deficiency. However, these tests alone cannot confirm hemophilia and must be followed by more specific tests.
Factor Activity Levels
Factor activity level tests measure the amount of clotting factor in the blood. These tests are crucial for determining the type and severity of hemophilia. Hemophilia A is confirmed by low levels of factor VIII, while Hemophilia B shows low levels of factor IX. These tests help guide treatment and management strategies.
Genetic Testing
Genetic testing is often performed to identify specific mutations in the F8 or F9 genes responsible for hemophilia. This testing is important for confirming the diagnosis, assessing the risk of inhibitors, and identifying carriers in the family. Genetic insights can guide personalized treatment plans and reproductive decisions.
Frequently Asked Questions
aPTT tests for prolonged clotting time, indicating a factor deficiency.
Factor levels determine the type and severity of hemophilia.
Genetic testing confirms diagnosis and helps identify family carriers.
The Bottom Line
Accurate diagnosis of hemophilia relies on a series of specialized tests to guide treatment.
References
- Blanchette VS, et al. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost 2014; 12:1935.
- White GC 2nd, et al. Definitions in hemophilia. Thromb Haemost 2001; 85:560.
- Franchini M, et al. Mild hemophilia A. J Thromb Haemost 2010; 8:421.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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