ArticleResearch and practice in thrombosis and haemostasis2025
Clinical management of bleeding manifestations in a family with the thrombomodulin C1611>A (p.Cys537Stop) mutation.
Article in Research and practice in thrombosis and haemostasis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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 generation and potentially leading to severe hemorrhagic manifestations. Key Clinical Question: What is the bleeding profile of patients with this rare condition? What are the most frequent clinical signs, and how can they be treated? Clinical Approach: We present a case study of an index patient with the Conclusion: Sharing clinical experiences is crucial for hematologists managing similar cases, as it provides valuable insights into effective treatment strategies.
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