Blackfan Diamond Anemia

What is Diamond Blackfan Anemia?

In Blackfan Diamond (or Diamond Blackfan) Anemia the body's bone marrow produces little or no red blood cells. A person is born with it.  Its cause is unknown, although a genetic error on Chromosome 19 is associated with about 25% of cases. In about 10-0% of cases, there is a family history of the disorder.  

What are the symptoms? Blackfan Diamond Anemia can be difficult to identify. In about one-third of children born with the disorder there are physical defects such as hand deformities or heart defects, but a clear set of signs hasn't been identified. The symptoms may also vary greatly, from very mild to severe and life-threatening. Red blood cells carry oxygen throughout the body, so a child with blackfan Diamond may have symptoms related to not enough blood oxygen (anemia): pallor (paleness) irregular heartbeat, due to the heart trying to keep oxygen moving throughout the body fatigue, irritability, and fainting.

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 ). A sample (biopsy) of the baby's bone marrow would show that few new red blood cells were being created.