A novel type 2N VWF gene mutation: A case report

Research output: Contribution to journalArticlepeer-review

Abstract

Men and boys whopresent with bleeding associated with low factor VIII levels and normal von Willebrand studies are assumed to have hemophilia A until proven otherwise. However, routinely available coagulation assays cannot easily distinguish mild hemophilia A from the 2N variant of von Willebrand disease. Wepresent a case that highlights the difficulties of recognizing this diagnosis, the role of genetic testing, and the identification of a 2Nvariant that has not been previously described.

Original languageEnglish (US)
Pages (from-to)651-652
Number of pages2
JournalBlood Coagulation and Fibrinolysis
Volume29
Issue number7
DOIs
StatePublished - 2018

All Science Journal Classification (ASJC) codes

  • Hematology

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