Ghosal Hematodiaphyseal Dysplasia: A Case Report with Review of Genetically Confirmed Cases

BACKGROUND: Ghosal hematodiaphyseal dysplasia syndrome (GHDS) is a rare disorder caused by loss-of-function mutations in thromboxane A synthase 1 (TBXAS1). OBSERVATION: A 5-year-old girl was evaluated for chronic anemia (Hb 6 g/dL), elevated C-reactive protein (38.9 mg/L) and increased erythrocyte sedimentation rate (80 mm/h). Whole-exome sequencing identified a homozygous pathogenic variant, c.1417G>T (p.Gly473Trp) in the TBXAS1 gene. Radiological findings were also consistent with GHDS; corticosteroid therapy led to clinical improvement. CONCLUSION: GHDS is a systemic inflammatory syndrome that responds to anti-inflammatory therapy; however, if untreated, it may progress to transfusion-requiring anemia, bone marrow failure, or severe skeletal manifestations.