📋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.

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Community Experience Ratings are based on individual experiences. Ratings may vary and do not replace professional medical advice.

Medical codes (for reference)

UMLS CUI: C1260899
ICD-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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