Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome that mainly affects the production of mature red blood cells.
Patients with DBA present with fatigue, sleepiness or pallor.
Most often anemia occurs in the first year of life and is typically macrocytic (red blood cells are larger than normal), but in some patients, it may occur even as late as in their adult life.
Children with DBA may have:
- Distinct facial appearance
- Unusual thumbs
- Cleft palate
- Short stature
- Heart anomalies
- Anomalies of the reproductive/urinary system
Diagnosing DBA can be difficult. At CHOP, we have some screening tests available such as ADA testing, but it is not a diagnostic criteria. A genetic change in ribosomal genes responsible for the disease can confirm the diagnosis of DBA, but not all genes causing DBA are currently known.