Glanzmann Thrombasthenia due to ITGA2B mutation: report of a China family

Objective: We describe physical and histological features, and the molecular impact of mutation ITGA2B in a non-consanguineous China family. In addition, we explore the fertility feasibility, pre-pregnancy guidance of GT patients ,and how to avoid live births with GT. Methods: We report two female patients, daughters of non-consanguineous parents. The platelet aggregation rate showed a low pattern. TRIO whole exome sequencing was requested. Results The patients received the LNG-IUS as treatment for HMB. The study identified two genetic variants on chr17:42457372 and chr17:42457057.