Haemophilia Differential Diagnosis

By Dr Ananya Mandal, MD

The symptoms of hemophilia can be similar to those seen in other diseases, which need to be excluded before a diagnosis of hemophilia A is confirmed.

Some examples are given below.

  • von Willebrand disease often presents with symptoms similar to hemophilia A. This condition affects 1 in 10,000 individuals.
  • von Willebrand disease type 2A is caused by low levels of von Willebrand factor, which leads to factor VIII being broken down prematurely. Unlike haemophilia A, this condition has an autosomal dominant inheritance pattern.
  • In von Willebrand disease type 2N, von Willebrand factor does not bind to factor VIII. This disease is inherited in an autosomal recessive fashion, meaning both parents need to pass on the abnormal gene if the child is going to develop symptoms.
  • In another form of von Willebrand disease (type 3), a low level of von Willebrand factor leads to the premature breakdown of factor VIII. This condition is inherited in an autosomal recessive fashion.
  • Severe cases of Vitamin K deficiency can also lead to symptoms similar to those seen in hemophilia. Vitamin K is needed for the production of certain clotting factors. The deficiency is common in newborns because the gut flora is not developed enough to produce adequate amounts of vitamin K.

Other congenital conditions that can mimic hemophilia A and need to be ruled out include platelet disorders such as Glanzmann thrombasthenia and deficiencies in other clotting factors (V, VII, X or XI) or fibrinogen.

Reviewed by , BSc

Further Reading

Last Updated: Aug 6, 2014

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  1. christine rodbourne christine rodbourne United Kingdom says:

    Can having haemophilia affect or lungs in any way

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