Diamond-Blackfan Anemia (DBA)

DBA is an inherited bone marrow failure syndrome that mainly affects the production of mature red blood cells. Thus, patients with DBA present with:

  • Anemia manifested as 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. Often there is a distinct facial appearance and sometimes there are also other anomalies such as unusual thumbs or cleft palate. Short stature is common and also anomalies of the reproductive/urinary system and heart have to be excluded as well.

The diagnosis of DBA can be difficult. We have some screening tests available such as ADA testing, but it is not a diagnostic criteria. A genetic change in one of the 10 ribosomal genes known to be responsible for the disease can confirm the diagnosis of DBA. These genes currently account for ~50% of DBA cases.