What is DBA Syndrome?

Diamond Blackfan Anemia (DBA) syndrome was first recognized as a distinct entity in 1938, although it was called “congenital hypoplastic anemia” by Dr. Louis K. Diamond and Dr. Kenneth D. Blackfan. Until recently, DBA syndrome was simply “DBA.” Due to the variability of symptoms between patients, individuals presenting with a known genetic mutation but without the typical features, and individuals being diagnosed in adulthood,  the medical community decided to expand the name to Diamond Blackfan Anemia Syndrome. This new name intends to capture all patients with DBA syndrome.

DBA syndrome is a rare inherited bone marrow failure syndrome, most often characterized by a failure of the bone marrow to produce red blood cells. This failure causes severe anemia, which is quite different from anemias caused by deficiencies in iron, vitamin B12, folate (folic acid), or erythropoietin. Some DBA syndrome patients may also have low neutrophils, low platelets, immunodeficiencies, and congenital abnormalities. Others may not exhibit any symptoms and are referred to as having DBA syndrome “currently without phenotype.” While most individuals are diagnosed in the first year of life, diagnosis may be made at any time, including adulthood.

In most cases, DBA syndrome is caused by a mutation in one of the genes that encode the ribosomal proteins. The ribosomal proteins have large and small subunits and most patients with DBA syndrome have mutations that cause a decrease either in the small (RPS) or large ribosomal protein (RPL) subunit component. The scientific community has discovered numerous ribosomal protein gene mutations and most recently, non-ribosomal protein gene mutations. These are very exciting discoveries for the DBA syndrome community, as it has resulted in increased scientific attention to this rare disorder. Advances in whole exome and whole genome sequencing are expected to advance additional gene mutation discoveries.

Potentially, patients with DBA syndrome can live long and healthy lives with appropriate medical treatment. The two most common treatments are chronic red blood cell transfusions with chelation therapy and long-term corticosteroid therapy. Some patients experience clinical remission, in which the bone marrow starts to make red blood cells and medical treatment related to the anemia of DBA syndrome is no longer needed. Other patients with DBA syndrome may choose to undergo a stem cell transplant (also called bone marrow transplant or cord blood transplant). This procedure can cure the anemia, but the patients still have DBA syndrome.

About half of the patients with DBA syndrome will have birth defects such as abnormalities of the face, heart, or kidneys. Patients may also have short stature in comparison to their siblings or others their own age without DBA syndrome. In addition, DBA syndrome patients have an increased risk of being diagnosed with cancer at earlier ages than typically seen in those without DBA syndrome.

Diamond Blackfan Anemia syndrome is the preferred name for this disorder, but other names for DBA syndrome include:

  • Diamond Blackfan Anemia
  • Blackfan Diamond syndrome
  • Congenital pure red cell aplasia
  • Congenital hypoplastic anemia
  • Aase syndrome (felt to be a subset of DBA syndrome in which there is a finger-like thumb, and not a distinct disorder)