A novel, homozygous mutation in GFI1B causing inherited thrombocytopenia with Glanzmann-like platelet dysfunction

Introduction Inherited platelet disorders (IPD) are rare. To date mutations in around 80 genes have been identified as causes of IPD with heterogeneous clinical manifestations [1] [2]. Recognizing IPD can be difficult but is advisable in order to provide patients with proper counseling and treatment in bleeding situations [3]. Novel mutations are frequently found and require an accurate platelet diagnostic work-up to confirm their clinical relevance and pathogenic role [4]. We report a female patient with lifelong hemorrhagic diathesis.