Functional assessment of genetic variants in thrombomodulin detected in patients with bleeding and thrombosis.

Thrombomodulin (TM) expressed on endothelial cells regulates coagulation. Specific nonsense variants in the TM gene, THBD, result in high soluble TM levels causing rare bleeding disorder. In contrast, though THBD variants have been associated with venous thromboembolism, this association remains controversial.

Multi-Gene Panel for Thrombophilia Testing in Venous Thromboembolism.

Background: Conventional tests for inherited thrombophilia focus on the five most-established inherited thrombophilias; i.e. deficiencies in antithrombin, protein C, and protein S, and the factor V Leiden and prothrombin G20210A variants.

Bleeding control improves after switching to emicizumab: Real-world experience of 177 children in the PedNet registry.

Introduction: Despite the rapid uptake of emicizumab in the paediatric haemophilia A (HA) population, real-world data on the safety and efficacy is limited.

Aim: To report on bleeding and safety in paediatric patients receiving emicizumab prophylaxis.

Methods: Data were extracted from the multicentre prospective observational PedNet Registry (NCT02979119).

Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.

: Despite a high incidence of sickle cell anemia, hydroxyurea (HU) treatment is rarely used in the DR Congo. This study aims to assess the efficacy of HU, the incidence of side effects that may limit its use in adults and to determine the dose needed for clinical improvement in patients. : In a prospective study, patients received an initial dose of 15 mg/kg/day which was increased by 5 mg/kg every 6 months, up to a maximum of 30 mg/kg/day.