What are characteristics of Diamond-Blackfan anemia (DBA)?

Updated: Jan 29, 2021
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Diamond-Blackfan anemia (DBA) is characterized by a normochromic macrocytic anemia that can be isolated, or can be associated with growth retardation or congenital malformation in the upper limbs, heart, and genitourinary systems. In a small minority of patients, DBA can progress to aplastic anemia. Nine genes have been found to be causative for DBA, and they are inherited in an autosomal dominant manner. [37] Approximately 50% of cases are inherited from a parent, and about 50% result from de novo mutations.


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