Co-existing mild Hemophilia A with Mild Type 1 Von Willebrand Disease: Case Report

نویسندگان

  • Mehmet AKIN
  • Deniz Yilmaz KARAPINAR
  • Can BALKAN
  • Yilmaz AY
  • Kaan KAVAKLI
چکیده

Von Willebrand disease and haemophilia A are the two most common inherited bleeding disorders. The worldwide incidence of VWD is estimated between 1% and 4% of the population without apparent racial or ethnic predilection. In the United States, the incidence of haemophilia A is estimated to be 25 per 100 000 male births. Despite the relatively high frequency of those two bleeding disorders in the general population, the reports of their coexistence together or of combined coagulopathies in general are rare. We describe 1year old male who was admitted to our hospital with a excessive bleeding after circumcision. Results: Laboratory evaluation revealed a prolonged activated partial thromboplastin time 46.2 sn (normal range 23.2-34.7) and low FVIII activity level of 5.5% of normal, von willebrand factor antigen and von willebrand factor ristocetin cofactor activity were also low at %50 and %44 of normal, respectively. Factor VIII C2 domain R2304H mutation was found. Conclusions: The propositus was now diagnosed with mild type 1 VWD in addition to mild severity haemophilia A. We believe that the co-existence of VWD and haemophilia A is underappreciated, under-diagnosed, and under-reported, given the fact that these are the two most commonly inherited coagulopathies.

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تاریخ انتشار 2011