Von Willebrand disease type 2B with a novel mutation in the VWF gene-Reference-Cited by-同舟云学术

Von Willebrand disease type 2B with a novel mutation in the VWF gene

Published:2021-01 Issue:1 Volume:41 Page:59-61
ISSN:0256-4947
Container-title:Annals of Saudi Medicine
language:en
Short-container-title:Ann Saudi Med

Author:

Jeraiby Mohammed Abdullah¹^ORCID,Sophie Susen²,Caron Claudine²,Campos Lydia³,Brigitte Tardy³

Affiliation:

1. From the Department of Pathology, Faculty of Medicine, Jazan University, Prince Muhammed Bin Naser Hospital, Jazan, Saudi Arabia

2. From the Department of Hematology, Regional and University Hospital Centre Lille, Lille, Hauts-de-France

3. From the Department of hematology, CHU Saint-Etienne, Sant Etienne, Rhone-Alpes, France

Abstract

We report a 38-year-old woman who presented with a subdural hematoma after minor facial trauma in a stressful situation. The laboratory data showed a subnormal platelet count (166×10 9 /L), VWF:RCo activity was 45% and VWF:Ag was 53% with a VWF:RCo/VWF Ag ratio of 0.79. Hemostasis results and gene analysis revealed von Willebrand disease (VWD) type 2B with normal multimers and a novel mutation c.4136 G>T (R1379L), which appears to be a novel mutation of VWD type 2B that is mainly diagnosed with hypersensitivity to ristocetin and an hyperfixation of platelet Willebrand to a recombinant Gp1b. SIMILAR CASES PUBLISHED: None.

Publisher

King Faisal Specialist Hospital and Research Centre

Subject

General Medicine

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