A new thrombomodulin-related coagulopathy

Individuals with bleeding disorders of unknown etiology exhibit bleeding diatheses of varying severity. Challenges persist in identifying the molecular basis of the bleeding experienced by many of these individuals; however, the advent and accessibility of advanced sequencing technologies has enabled the identification of deleterious mutations in a number of genes encoding proteins necessary for optimal hemostatic function.1 On occasion, the connection between genotype and bleeding is not immediately apparent, but further investigation can ultimately yield unexpected insights into the biology underlying key hemostasis pathways.