Clinical management of bleeding manifestations in a family with the thrombomodulin C1611>A (p.Cys537Stop) mutation

Clinical management of bleeding manifestations in a family with the thrombomodulin C1611>A (p.Cys537Stop) mutation

Background: The bleeding disorder described here is due to a heterozygous autosomal dominant C1611>A variant in the thrombomodulin (TM) gene that significantly elevates plasma TM levels, which enhances the activation of protein C. This activation inhibits factors VIIIa and Va, reducing thrombin g...

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Bibliographic Details
Main Authors: Serge Pierre-Louis, Johalene Rabout, Octavio Labrada, Fatima Radouani, Emeline Chonville, Beatrice Ferrey, Olivier Pierre-Louis, Yesim Dargaud
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Research and Practice in Thrombosis and Haemostasis
Subjects:
bleeding
C1611>A
p.Cys537Stop
platelet transfusion
recombinant activated factor VII (rFVIIa)
thrombomodulin (TM)
Online Access:http://www.sciencedirect.com/science/article/pii/S2475037925000020
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