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Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report

Murugan Sudhakar1, Madhubala Sharma1, Sasidaran Kandasamy2

  • 1Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

European Journal of Medical Genetics
|April 8, 2022
PubMed

Ghosal hematodiaphyseal dysplasia (GHDD) is a rare, autosomal recessive condition characterised by diaphyseal dysplasia of long bones with defective haematopoiesis. We describe 2 such cases with clinical and radiological evidence of GHDD. Molecular analysis revealed novel variants in TBXAS1 gene in both of them. Suspicion and confirmation of this entity is crucial in cases of refractory anemia with bony deformities, as the clinical manifestations in this entity are usually well responsive to corticosteroids.

Keywords:
AnemiaCorticosteroidsGhosal hematodiaphyseal dysplasiaTBXAS1

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