ORPHA:124
Diamond-Blackfan anemia
Also called DBA, Congenital PRCA, Congenital pure red cell aplasia, Diamond-Blackfan anemia syndrome
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Childhood, Infancy, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Europe)
- Rarity class
- 1-9 / 1 000 000
ORPHA:124 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Pure red cell aplasia
- Elevated red cell adenosine deaminase activity
- Abnormality of the head
- Pallor
- Lethargy
- Growth delay