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Steroid-responsive Anemia in Patients of Ghosal Hematodiaphyseal Dysplasia: Simple to Diagnose and Easy to Treat

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Ghosal hematodiaphyseal dysplasia (GHDD) is a recently recognized cause of steroid-responsive anemia. We would like to report 3 cases of GHDD who presented in early childhood with moderate to severe anemia, splenomegaly, and a hypocellular marrow with increased reticulin. They were easily diagnosed with long-bone x-rays showing diaphyseal and metaphyseal widening and loss of diaphyseal constriction. All cases dramatically responded to oral steroid and no longer needed blood transfusion. They required steroid at low doses for long term (up to 5 y). GHDD is easy to diagnose with long-bone radiography and consistently responds to steroid. It should therefore be considered as a differential diagnosis of unusual anemia in early childhood, especially in children from the Middle East or the Indian subcontinent.
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Keywords: diaphyseal dysplasia; hematodiaphyseal dysplasia; steroid-responsive anemia

Document Type: Research Article

Affiliations: 1: Departments of Child Health 2: Radiology, Christian Medical College, Vellore, Tamil Nadu, India

Publication date: May 1, 2015

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