Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge

Pediatr Blood Cancer. 2014 Oct;61(10):1888-90. doi: 10.1002/pbc.25054. Epub 2014 Apr 7.

Abstract

Hemophilia A and von Willebrand disease are the two most common inherited bleeding disorders. Despite their frequency, however, there are very few reports of co-inheritance of the two disorders. We present the first report of a patient with mild hemophilia A and heterozygosity for type 2N von Willebrand disease (VWD). We discuss the patient's phenotype and highlight the diagnostic and therapeutic challenges caused by this co-inheritance.

Keywords: bleeding disorders; hemophilia A; type 2N; von Willebrand disease.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Factor VIII / genetics
  • Hemophilia A / complications
  • Hemophilia A / genetics*
  • Heterozygote
  • Humans
  • Male
  • Phenotype
  • von Willebrand Disease, Type 2 / complications
  • von Willebrand Disease, Type 2 / genetics*
  • von Willebrand Factor / genetics

Substances

  • von Willebrand Factor
  • Factor VIII