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A novel type 2N VWF gene mutation

a case report

Evans, Matthew S.a; Eyster, M. Elaineb

Blood Coagulation & Fibrinolysis: November 2018 - Volume 29 - Issue 7 - p 651–652
doi: 10.1097/MBC.0000000000000761
CASE REPORTS

Men and boys who present 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. We present a case that highlights the difficulties of recognizing this diagnosis, the role of genetic testing, and the identification of a 2N variant that has not been previously described.

aDepartment of Medicine, Division of Hematology/Oncology, Hemophilia Treatment Center of Central Pennsylvania, Penn State Health Milton S. Hershey Medical Center

bDistinguished Professor, Penn State Health-Milton S. Hershey Medical Center, Department of Medicine, Division of Hematology/Oncology, Pennsylvania. USA

Correspondence to Matthew S. Evans, MD, Assistant Professor, Penn State Health-Milton S. Hershey Medical Center, Department of Medicine, Division of Hematology/Oncology, Hershey, PA 17033, USA. Tel: +1 717 531 0003 ext 28 3405; fax: +1 717 531 0647; e-mail: mevans1@pennstatehealth.psu.edu

Received 16 March, 2018

Revised 7 June, 2018

Accepted 5 July, 2018

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