The three most common screening tests are:
Diagnosis of inherited bleeding disorders in women
- What routine screening tests are used?
- Are these routine screening tests a good way to diagnose bleeding disorders?
- What tests are reliable in diagnosing bleeding disorders?
- Where are these tests done?
What routine screening tests are used?
Are these routine screening tests a good way to diagnose bleeding disorders?
No, they are not. These tests will often give normal results in women who have bleeding disorders. For example, in von Willebrand disease:
The prothrombin time will be prolonged only with factor I, II, V, VII and X deficiencies.
The partial thromboplastin time will be prolonged only with factor I, II, V, VIII, IX, X, XI and XII deficiencies.
What tests are reliable in diagnosing bleeding disorders?
| Bleeding time | This measures the length of time it takes for a simple cut to stop bleeding. |
| Factor VIII:C | This measures the amount of Factor VIII clotting activity. |
| VWF: antigen | This measures the amount of Von Willebrand Factor. |
| Ristocetin cofactor activity | This measures how well the VWF works |
| VWF multimers | This measures the structure of the VWF. |
| Platelet function tests | These measure how well the platelets work. |
For platelet function disorders, these tests permit an accurate diagnosis.
| Bleeding time | This measures the length of time it takes for a simple cut to stop bleeding. |
| Platelet aggregation studies | These measure if there are abnormalities in the way platelets clump together. |
| Von Willebrand Factor studies | These find out if the Von Willebrand Factor protein is working normally and rule out this similar disorder as the cause of the bleeding. |
| Specialized tests | These determine the exact type of platelet function disorder. |
For hemophilia A and B, these tests permit an accurate diagnosis
| Factor VIII assay | This measures the amount of Factor VIII activity in the blood. |
| VWF: antigen | This measures the amount of Von Willebrand Factor in the blood so as to rule out VWD as the cause of the bleeding in Hemophilia A. |
| Factor IX assay | This measures the amount of Factor IX activity in the blood. |
| Genetic studies | These tests determine the exact genetic mutation and make it easier to provide prenatal diagnosis. |
Because the other clotting factor deficiencies are so rare, tests are first done to rule out von Willebrand disease, platelet function disorders, and hemophilia A and B as the cause of bleeding. If one of the rare factor deficiencies is suspected, a laboratory assay is done to measure the level of the specific clotting factor.
Where are these tests done?
These tests are done in a lab which specializes in bleeding disorders. Most hemophilia / bleeding disorder clinics offer this service.
It is extremely important for a woman who suspects she has a bleeding disorder to go to a hemophilia / bleeding disorder clinic for testing. People at such a clinic know that tests often need to be repeated to get a correct diagnosis. This is because test results can be affected by:
Because of these testing difficulties, many women have been told they have no bleeding disorder. In fact, they do.





