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ABSTRACT: Introduction
A massive increase of soluble thrombomodulin (sTM) due to variants in the thrombomodulin gene (THBD) has recently been identified as a novel bleeding disorder.Aim
To investigate sTM levels and underlying genetic variants as a cause for haemostatic impairment and bleeding in a large number of patients with a mild to moderate bleeding disorder (MBD), including patients with bleeding of unknown cause (BUC).Patients and methods
In 507 MBD patients, sTM levels, thrombin generation and plasma clot formation were measured and compared to 90 age- and sex-matched healthy controls. In patients, genetic analysis of the THBD gene was performed.Results
No difference in sTM levels between patients and controls was found overall (median ([IQR] 5.0 [3.8-6.3] vs
SUBMITTER: Mehic D
PROVIDER: S-EPMC9293080 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature