Diamond Blackfan Anemia
Author: Katherine Calvo, MD, PhD; Amy S. Duffield, MD, PhD, 09/21/2015
Category: Bone marrow failure > Diamond-Blackfan Anemia
Published Date: 01/26/2016
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A 3 y.o. boy was evaluated for anemia with a normal platelet count and normal white count. There were no other abnormalities noted. He required transfusion every 4-5 weeks. Evaluation showed a R56L missense mutation in exon 3 of the RPS19 gene, a novel mutation consistent with the diagnosis of Diamond Blackfan anemia.
The parents are not carriers.
Diamond Blackfan anemia marrow aspirate
Bone marrow aspirate shows a marked myeloid predominance with rare early erythroid precursors
Hemosiderin Laden macrophages
Hemosiderin laden macrophages were also present
Apoptotic cells
Apoptotic cells appeared to be increased
Flow Cytometry
Flow cytometry showed no erythroid precursors
