Ghosal hematodiaphyseal dysplasia – A remediable cause of refractory anemia: A case report

Abstract

Background: The cardinal features of Ghosal hematodiaphyseal dysplasia (GHDD) include severe myelopathic anemia with increased density of long bones with or without deformities. Early diagnosis helps in the institution of corticosteroid therapy, improving hematological parameters and bone changes. Case report: We report a 6-year-old girl of consanguineous birth who presented with progressive anemia and thrombocytopenia without bony deformities, lymphadenopathy, or organomegaly. The skeletal survey was normal. Bone marrow was severely hypocellular. She had a homozygous point mutation in exon 12 of the TBXAS1 gene and was diagnosed with GHDD. She was started on oral corticosteroids and is on follow-up, with reduced transfusion needs. Conclusion: GHDD, although rare, must be considered a differential diagnosis for difficult-to-treat anemia as it is simple to diagnose and easy to treat. Even without an obvious abnormality in the skeletal survey, one needs to keep this possibility in mind.

Keywords

• Anemia
• Steroids
• Skeletal
• Hereditary