Von Willebrand disease type 2B with a novel mutation in the VWF gene.
| Autor: | Jeraiby MA; From the Department of Pathology, Faculty of Medicine, Jazan University, Prince Muhammed Bin Naser Hospital, Jazan, Saudi Arabia., Sophie S; From the Department of Hematology, Regional and University Hospital Centre Lille, Lille, Hauts-de-France., Caron C; From the Department of Hematology, Regional and University Hospital Centre Lille, Lille, Hauts-de-France., Campos L; From the Department of hematology, CHU Saint-Etienne, Sant Etienne, Rhone-Alpes, France., Brigitte T; From the Department of hematology, CHU Saint-Etienne, Sant Etienne, Rhone-Alpes, France. |
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| Jazyk: | angličtina |
| Zdroj: | Annals of Saudi medicine [Ann Saudi Med] 2021 Jan-Feb; Vol. 41 (1), pp. 59-61. Date of Electronic Publication: 2021 Feb 04. |
| DOI: | 10.5144/0256-4947.2021.59 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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