A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia.

The article highlights the study that gene mutation is responsible for macrothrombocytopenia. Topics discussed include Introduction on Congenital macro thrombocytopenias characterized by decreased platelets count with enlarged platelet size; misdiagnoses of patients with idiopathic thrombocytopenic purpura and wrongly treated with splenectomy; and therapeutic use of immunoglobulin in the treatment..