Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

Abstract excerpt

Abstract Background Platelet-type bleeding disorder 20 (BDPLT20), as known as SLFN14-related thrombocytopenia, is a rare inherited thrombocytopenia (IT). Previously, only 5 heterozygous missense mutations in the SLFN14 gene have been reported. Methods A comprehensive clinical and laboratory examination of a 17-year-old female patient with macrothrombocytopenia and severe mucocutaneous bleeding was performed....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Blood disorders and treatments
• Share to Blood properties and coagulation
• Share to Platelet Disorders and Treatments