Diamond-Blackfan Anemia
Diamond-Blackfan Anemia (DBA, OMIM #105650) is a rare inherited bone marrow failure syndrome characterized by erythroid hypoplasia due to a developmental block between burst-forming unit-erythroid and colony-forming unit-erythroid stages. Approximately 50% of DBA patients have congenital malformations, primarily in the head and thumbs, along with short stature and cardiac and urogenital abnormalities. DBA is classified as a ribosomopathy, with mutations in ribosomal protein genes causing defective ribosomal RNA (rRNA) maturation. More info
Pathogenic mechanism
The pathogenic mechanisms underlying DBA are linked to mutations in RP genes that disrupt ribosome assembly and function. These disruptions particularly affect erythroid progenitors, though the precise pathways connecting ribosomal dysfunction to the observed hematological and developmental abnormalities are still under investigation.
Mouse Models
- Rps19R67∆