What is Diamond-Blackfan Anemia (DBA)?
Diamond-Blackfan anemia is a bone marrow failure syndrome characterized by a failure to produce red blood cells (red cell aplasia). The other blood cells, such as white blood cells and platelets are usually normal. The majority of children are diagnosed in infancy, however occasionally the diagnosis is not made until adulthood.What are the signs and symptoms of DBA?
- Symptoms resulting from low red blood cells/anemia such as pale skin, fatigue, headache
- Short stature
- Birth defects such as abnormal thumbs are found in some but not all cases
How is DBA diagnosed?
- Blood tests to look for anemia and other chemical alternations associated with DBA
- A bone marrow evaluation to look at the blood forming cells
- Genetic testing (blood test) to identify the ‘error’ or mutation associated with DBA. There are many different genes linked to DBA that have been identified however many children with DBA do not have mutations in the known genes. In these situations, the diagnosis is made by ruling out other causes of anemia/red cell aplasia.
How is DBA treated?
Possible treatment options include:- Corticosteroid medication
- Red blood cell transfusions
- Bone marrow transplantation
- Close monitoring and regular testing
