Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome Associated with Macrothrombocytopenia

Abstract

Congenital thrombocytopenias are a diverse range of diseases. Of them, Glanzmann thrombasthenia is an autosomal recessive platelet aggregation disorder due to defect in the alpha IIb/beta3 integrins, coded by the ITGA2B and ITGB3 genes. While most patients with mutations in the ITGA2B and ITGB3 genes typically exhibit normal platelet size and count, there are some rare and novel variants in these genes that can lead to an autosomal dominant form of macrothrombocytopenia (large platelets) accompanied by platelet functional defects. These cases have been collectively referred to as Glanzmann thrombasthenia-like syndrome (GTLS). We report a 12-year-old male presenting with mild bleeding symptoms and macrothrombocytopenia, who was diagnosed with GTLS and macrothrombocytopenia, also known as platelet-type bleeding disorder-24, caused by a novel heterozygous variant of the ITBG3 gene.

Keywords

• bleeding disorders
• glanzmann thrombasthenia
• itgb3
• macro thrombocytopenia