Blackfan Diamond Anemia Overview

woman holding her newborn on her chest
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In Blackfan Diamond (or Diamond Blackfan) anemia, the body's bone marrow produces little or no red blood cells. Blackfan Diamond anemia affects approximately 600 to 700 people worldwide. Its cause is unknown, although a genetic error in a gene called RPS19 on chromosome 19 is associated with about 25% of cases. In about 10% to 20% of cases, there is a family history of the disorder.


Blackfan Diamond anemia is present at birth but 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.


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, because the disorder is extremely rare and few physicians are familiar with it.

A complete blood cell count (CBC) for the baby would show a very low number of red blood cells as well as low hemoglobin. Another blood test would show high adenosine deaminase activity (ADA). A bone marrow sample (biopsy) would show that few new red blood cells were being created.


The first line of treatment for Blackfan Diamond anemia is to give the child steroid medication, usually prednisone. About 70% of children with Blackfan Diamond anemia will respond to this treatment, in which the medication stimulates the production of more red blood cells. However, this means that the child will have to take steroid medication for the rest of his or her life, which has serious side effects such as diabetes, glaucoma, bone weakening (osteopenia), and high blood pressure. Also, the medication may suddenly stop working for the person at any time.

If someone doesn't respond to steroid medication or needs too high a dose to keep his/her red blood cell count up, the treatment becomes blood transfusions. Regular blood transfusions will provide red blood cells but also leads to too much iron in the body. Normally, the body uses the iron when making new red blood cells, but since the person with Blackfan Diamond anemia isn't making many cells, the iron builds up. The person then needs to take medication that takes the excess iron out of the body.

The only cure available for Blackfan Diamond anemia is bone marrow transplantation, which replaces the person's defective bone marrow with healthy marrow. However, transplantation is a difficult procedure to go through and it doesn't always work. It is usually reserved for people whom steroid medications and blood transfusions don't help.

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Article Sources

  • Guinan, EC. "Diagnosis and Management of Aplastic Anemia." ASH Education Book, 2011, 76-81. 
  • National Organization for Rare Disorders. "Blackfan Diamond Anemia." Index of Rare Diseases, 2008. 
  • UK Diamond Blackfan Anaemia Support Group. "What is Diamond Blackfan Anemia?" 2008.