Phenotypic variation in severe hemophilia A is related to endogenous thrombin potential and plasma levels of factor VII.

Hemophilia A is a bleeding disorder caused by deficiency or low activity of circulating factor VIII characterized by prolonged blood coagulation time and often spontaneous bleeding. Patients with the severe form of the disease may present considerable heterogeneity in the occurrence of bleeding episodes and some of them have a mild hemophilia A phenotype. This study aimed to evaluate the association of biomarkers and coagulation parameters to the differential hemorrhagic profile of severe hemophilia A patients.

Genetic variants of VWF gene in type 2 von Willebrand disease.

Introduction: von Willebrand disease (VWD) is the most common inherited bleeding disorder. Few studies have explored the molecular basis of type 2 VWD.

Aim: This study aimed to identify variants associated with type 2 VWD.