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Ghosal Type Hematodiaphyseal Dysplasia.

Amrit Jeevan1, Mathilde Doyard, Madhulika Kabra

  • 1Department of Pediatrics, AIIMS, New Delhi, India; #Imagine Institut des Maladies Genetiques, France;and $Laboratoire de Genetique Moleculaire, Institut de Recherche Necker Enfants Malades, Paris, France. Correspondence to: Dr Neerja Gupta, Assistant Professor, Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India. neerja17aiims@gmail.com.

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Ghosal Type Hematodiaphyseal Dysplasia, a rare genetic disorder, causes anemia and bone abnormalities. Low-dose steroid therapy effectively treated a child with this condition, normalizing hemoglobin and halting bone changes.

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Area of Science:

  • Genetics
  • Pediatrics
  • Hematology

Background:

  • Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder.
  • Characterized by refractory anemia and diaphyseal bone dysplasia.

Observation:

  • A 3-year-old male child presented with progressive anemia and bowing of thighs.
  • Genetic analysis revealed a homozygous point mutation (c.1238G>A, p.Arg413Glu) in Exon 16 of the TBXAS1 gene.

Findings:

  • Low-dose steroid therapy led to normalization of hemoglobin levels.
  • Steroid treatment also prevented further progression of bony deformities.

Implications:

  • Refractory anemia with bony deformities in children warrants investigation for inherited bone dysplasia.
  • Early diagnosis and treatment can significantly improve patient outcomes.