How is Diamond Blackfan Anemia diagnosed?
Blackfan Diamond anemia is usually diagnosed within the first two years of life, sometimes even at birth, based on symptoms. For example, a baby might be suspected of having anemia if he or she is always pale and gets short of breath when drinking a bottle or nursing. Parents often suspect there is “something wrong” with their child. The diagnosis of Blackfan Diamond anemia in particular might not be recognized right away, though, because the disorder is rare and not all physicians are familiar with it. A blood test for the baby would show a very low number of red blood cells, as well as low hemoglobin and high adenosine deaminase activity (ADA).