Abstract
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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
