DBA usually presents within the first two years of life. Some cases present much later. Initial bloods are taken to test for low haemoglobin and high Adenosine Deaminase Activity (ADA) in the blood. This is not definitive, but points to DBA as a likely cause. Bone marrow biopsies can confirm that the erythroid (red cell) precursors are depleted, which can point to a viral infection (Parvovirus B19) or DBA. Doctors may also check the reticulocyte count. High reticulocyte counts point to conditions where blood is being created normally but is being destroyed. Low counts indicate a lack of red cell production. In DBA, reticulocyte counts are typically low, and can be zero. DBA sufferers usually have a very high MCV (Mean Cell Volume) so tend to have larger red blood cells, and a higher percentage of foetal haemoglobin (Hb F) than normal, all which can be tested through bloods and bone marrow biopsies.
DBA UK is not a medical charity and is not qualified to give medical advice on DBA. Please talk with your doctor or health care provider if you have been newly diagnosed and are worried about the medical aspects of DBA.
If you’d like to speak with a patient or family who has been directly affected by DBA then please contact us.