Congenital Hypoplastic Anemia (Diamond-Blackfan Anemia)

Published on 25/03/2015 by admin

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Last modified 25/03/2015

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Chapter 442 Congenital Hypoplastic Anemia (Diamond-Blackfan Anemia)

Congenital hypoplastic anemia (Diamond-Blackfan anemia, DBA) is a rare condition that usually becomes symptomatic in early infancy, often presenting with pallor in the neonatal period. More than 90% of cases are recognized in the 1st year of life. Occasionally the disorder is first diagnosed later in childhood. The most characteristic hematologic features are anemia, usually macrocytic, reticulocytopenia, and a deficiency or absence of red blood cell (RBC) precursors in an otherwise normally cellular bone marrow.