Meeting
Abstract Number: 856
SHM Converge 2024
Case Presentation: Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with myelophthisic anemia and distinctive bony changes. TBXAS1 gene encodes Thromboxane A synthase. In GHDD, dysregulation of TBXAS1 occurs and this increases prostaglandin synthesis and causes direct bone marrow injury. Here we report, a 31-year-old Southeast Asian female presented with bilateral knee […]