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Updated: May 1, 2026
Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Ghosal Hematodiaphyseal Dysplasia: A Case Report With Review of Genetically Confirmed Cases
Gürcan Dikme1, Mutlu Karkucak2, Feyza Sönmez Topçu3
1Department of Pediatrics, Division of Pediatric Hematology and Oncology.
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. Radiologic 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.
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