
Diamond-Blackfan Anemia
DBA
📋Overview
Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized primarily by a failure to produce red blood cells, leading to anemia. It is a congenital pure red cell aplasia, often presenting in infancy or early childhood. DBA is caused by mutations affecting ribosomal protein genes, resulting in defective ribosome biogenesis and impaired erythropoiesis. It is considered a ribosomopathy and is associated with congenital anomalies in some cases.
Medical codes (for reference)
UMLS CUI: C1260899ICD-10-CM
D61.01
MeSH
D029503
SNOMED CT (US)
88854002
Codes are provided for reference and interoperability. They are not a diagnosis.
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