Senlin Zhang, Jing Ling, Kai Cui, Shihong Zhan, Jiajia Zheng, Wenyi Wang, Junjie Fan, Shaoyan Hu
BACKGROUND: Bernard-Soulier syndrome (BSS) is a rare inherited macrothrombocytopenia, usually autosomal recessive, which is characterized by prolonged bleeding, thrombocytopenia, and abnormally large platelets. METHODS: For more than 6 years, we misdiagnosed a patient with BSS without an obvious bleeding tendency as having idiopathic thrombocytopenia purpura (ITP), prior to obtaining a genetic analysis. On admission, routine hematology showed a platelet count of 30 × 109 /L and mean platelet volume (MPV) of 14...
December 2024: Hematology (Amsterdam, Netherlands)