Steroid-responsive anemia with bony dysplasias: What lurks behind!

doi:10.1093/tropej/fmae028

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Article

Steroid-responsive anemia with bony dysplasias: What lurks behind!

Journal of tropical pediatrics - 10 Aug 2024

Khandelwal Shipra, Khurana Ritika, Kanvinde Purva, Khan Sanaa, Shah Dhara, Dhabale Trupti, Chadha Vaibhav, Shah Nitin, Desai Mukesh, Bodhanwala Minnie, Swami Archana, Mudaliar Sangeeta

Abstract excerpt

Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by diaphyseal dysplasia of long bones, bone marrow fibrosis, and steroid-responsive anemia. Patients with this disease have a mutation in the thromboxane-AS1 (TBXAS1) gene located on chromosome 7q33.34. They present with short stature, varying grades of myelofibrosis, and, hence cytopenias. Patients with the above...

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PMID: 39277773
DOI: 10.1093/tropej/fmae028

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