Hemophilia B (Factor IX Deficiency) Differential Diagnoses

Updated: Dec 22, 2022
  • Author: Robert A Zaiden, MD; Chief Editor: Srikanth Nagalla, MD, MS, FACP  more...
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Diagnostic Considerations

Problems to be considered include vitamin K and other factor deficiencies, as well as acquired hemophilia. Other congenital bleeding disorders must be excluded. These may include the following:

  • von Willebrand disease (autosomal dominant transmission)
  • Platelet disorders (eg, Glanzmann thrombasthenia)
  • Deficiency of other coagulation factors (ie, factor V [FV], FVII, FX, FXI, or fibrinogen)

Differentiating between severe hemophilia A and hemophilia B is almost clinically impossible, but specific laboratory factor assays can help with the distinction. Conditions that can increase FVIII levels (eg, age, ABO blood type, stress, exercise) can obscure the diagnosis of hemophilia A. The diagnosis of hemophilia B may be delayed by physiologically low levels of all vitamin K–dependent coagulation factors. FIX Leyden, in which FIX levels progressively increase after puberty to nearly normal values, must also be considered when hemophilia B is diagnosed.

For related information, see Hemophilia A, Acquired Hemophilia, and Hemophilia C.

Differential Diagnoses