Severe bleeding in a young patient with mild thrombocytopenia due to a novel mutation in growth factor inhibitor 1B

Introduction Inherited thrombocytopenia related to distinctive and clinically relevant bleeding disorder are rare diseases. Special diagnostic tools and intensive medical care are needed for these patients. Chronic thrombocytopenia is a disorder defined by low platelet count (<150.000 platelets/µl) caused by autoimmune platelet destructions or reduced platelet production by megakaryocytes. Growth factor inhibitor 1B (GFI1B) mutations have been reported to be related to thrombocytopenia and distinctive bleeding tendencies of patients.1,2 In mice, impaired erythropoiesis and thrombopoiesis were associated with GFI1B deficiency.3 A syndrome named bleeding disorder Platelet-Type 17 (BDPLT17) is rare but already reported on the Online Mendelian Inheritance in Man OMIM database.