Diamond Blackfan Anemia (DBA) is a potentially life threatening,  rare genetic blood disorder, characterized by severe chronic anemia due to complete or partial failure of the bone marrow to produce red blood cells. 

DBA is more commonly diagnosed within the first year of life.  In some cases patients are born in remission and will present with the symptoms later.  In either case, the patient presents with pale skin, weakness, critically low hemoglobin, and difficulty breathing.  DBA can be diagnosed by genetic testing, medical and family history, a physical examination, blood counts, levels of the enzyme adenosine deaminase in the blood or a bone marrow biopsy.

Many DBA patients also have other medical problems associated with DBA such as short stature, thumb abnormalities and heart problems amongst others.  DBA effects 7 in every 1 million live births with only 25-35 newly diagnosed cases in Canada and the US each year.

The Cause
The exact cause is not clear, but the problem seems to be a fault in one of the early steps of red blood cell production following the mutation or deletion of certain DBA genes, only 11 of which have yet been identified.  These mutations interfere with the working of the cell, preventing the production of red cells. The cause of the mutation or deletion is as yet unknown.