NBEAL2 and Macrothrombocytopenia: GPS is a rare recessive disorder caused by biallelic variants in NBEAL2 and characterized by bleeding symptoms, the absence of platelet α-granules, splenomegaly, and bone marrow fibrosis.[6,7] Like GPS patients, mice lacking NBEAL2 expression exhibit macrothrombocytopenia, deficiency of platelet α-granules, splenomegaly, myelofibrosis, impaired platelet function and abnormalities in megakaryocyte development.[1] However, we present a family with 2 novel NBEAL2 gene mutations but the platelet was not gray, and α-granules of platelet were also not deficient.