diamond-blackfan anemia
Rare inherited bone marrow failure syndrome characterized by pure red blood cell aplasia presenting in early infancy.
Full Definition
Diamond-Blackfan anemia is a rare congenital bone marrow failure syndrome that primarily affects red blood cell production. The condition typically presents within the first year of life with severe anemia, growth retardation, and characteristic physical abnormalities including cleft palate, thumb malformations, and cardiac defects. The disorder is caused by mutations in ribosomal protein genes, leading to ribosomal dysfunction. Treatment typically involves corticosteroids, blood transfusions, or hematopoietic stem cell transplantation. The condition affects approximately 1 in 100,000 to 200,000 births.
Usage
Usage note: Capitalize both 'Diamond' and 'Blackfan' as they are proper names.
In Context
- "The newborn's severe anemia and thumb abnormalities were consistent with Diamond-Blackfan anemia." — Neonatal consultation note
- "Genetic testing confirmed Diamond-Blackfan anemia with a pathogenic variant in the RPS19 gene." — Genetics laboratory report