What is Diamond Blackfan Anemia?
Diamond Blackfan Anemia (DBA) was first recognized as a distinct entity in 1938, although it was called “congenital hypoplastic anemia” at that time. Diamond Blackfan Anemia (“DBA”) is a rare inherited bone marrow failure syndrome, characterized by a failure of the bone marrow (the center of the bone where blood cells are made) to produce red blood cells. This failure causes DBA patients to become severely anemic. It is important to note that this anemia is not the result of a deficiency in iron, vitamin B-12, folate, or erythropoietin, which is a blood cell stimulating factor. Although a number of theories regarding the cause of DBA have been proposed, it is now widely accepted that DBA is a ribosomal protein disease. The disorder results from an intrinsic progenitor cell defect in which erythroid progenitors and precursors are highly sensitive to death by apoptosis (self-destruction).
Most DBA patients are diagnosed within the first year of life. Potentially, DBA patients can live long and healthy lives with appropriate medical treatment. The two most common forms of treatment are blood transfusion therapy and corticosteroid medication. Some DBA patients are in remission and need no medical treatment related to their DBA. Other DBA patients may choose to undergo the risky procedure of a stem cell transplant (also referred to as a bone marrow transplant).
The scientific community has discovered numerous ribosomal gene mutations and most recently, non-ribosomal protein gene mutations. These are very exciting discoveries for the DBA community, as it has resulted in increased scientific attention to this rare disorder. Advances in whole exom sequencing are expected to advance additional gene mutation discoveries.
Diamond Blackfan Anemia is the preferred name for this disorder but other names for DBA include:
- Blackfan Diamond syndrome
- Congenital pure red cell aplasia
- Congenital hypoplastic anemia
- Aase syndrome (felt to be a subset of DBA in which there is a finger-like thumb, and not a distinct disorder)