Diamond-Blackfan Anemia

What is Diamond-Blackfan anemia?

Diamond-Blackfan anemia (DBA) is a rare blood disorder that occurs when the bone marrow fails to make red blood cells, which are essential for carrying oxygen from the lungs to all the other parts of the body. First described in 1938 by Boston Children's Hospital doctors Kenneth Blackfan, MD, and Louis Diamond, MD (who later established Dana-Farber/Boston Children's Cancer and Blood Disorders Center), DBA is a potentially life-threatening condition that can cause severe anemia and other abnormalities.

A potential treatment swims into view

Zebrafish make good stand-ins for studying diseases, like Diamond-Blackfan anemia .


zebrafish with red blood cells

How we care for Diamond-Blackfan anemia

Children and teens with Diamond-Blackfan anemia (DBA) are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure and MDS Program, recognized as one of the nation's best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced diagnosis and treatments, including DNA mutation identification and ongoing clinical trials investigating new treatments. Dana-Farber/Boston Children's is also home to one of the largest and most experienced pediatric stem cell transplant centers in the world. Stem cell (bone marrow) transplant is currently the only cure for DBA.

Our areas of research

In addition to providing information and access to local and national research initiatives, our clinic offers multidisciplinary care (physician specialists, dentists, nurse practitioners, social workers) and consultative services for patients with Diamond-Blackfan anemia.

Our researchers are actively collecting samples of blood and bone marrow (voluntary) from patients with Diamond-Blackfan anemia and other bone marrow failure syndromes. Collections and registries like this help researchers and physicians better understand genetic and molecular aspects of the diseases and clinical outcomes of patients — first steps to identifying possible new treatments.

In addition, physician-scientists at Dana-Farber/Boston Children's are active in research programs that involve:

  • ribosome function in human and mouse cells
  • the role of GATA-1 in DBA
  • genetics of DBA
  • screening of candidate new drugs in zebrafish

For many children with rare or hard-to-treat conditions, clinical trials provide new options. Search our open clinical trials.