Hemophilia C Workup
- Author: Paula H B Bolton-Maggs, DM, FRCPath, FRCP; Chief Editor: Robert J Arceci, MD, PhD more...
Laboratory studies for suspected hemophilia C should include the following:
Complete blood count (CBC)
Measurement of factor XI levels
Measurement of factor VIII and von Willebrand factor.
Prothrombin time (PT), aPTT, and thrombin time (TT) (usually performed before the measurement of factors)
With regard to the last item, the aPTT is usually prolonged in factor XI deficiency (but depends on the sensitivity of the reagent and test system--partial deficiency can be missed), whereas the PT and TT are normal.
A specific assay for factor XI activity is necessary to confirm the diagnosis. Assays of other clotting factors and platelet function may be needed to exclude a combined hereditary deficiency of factor XI and other factors.
No imaging studies are necessary in diagnosing factor XI deficiency. However, imaging studies may be obtained to evaluate the extent of bleeding in the management of bleeding at any site.
Genetic analysis for the mutation in factor XI is helpful in determining which mutation caused the deficiency.
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