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Disease characteristics

Excerpted from the GeneReview: Diamond-Blackfan Anemia
Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound isolated normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in approximately 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life (median age of onset: 2 months). Eventually, 40% of affected individuals are corticosteroid dependent, 40% are transfusion dependent, and 20% go into remission. The phenotypic spectrum ranges from a mild form (e.g., mild anemia; no anemia with only subtle erythroid abnormalities; physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.

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