Diamond Blackfan anemia

At Boston Children's Hospital, our care is informed by our research. We have a long history of research and innovation in blood disorders, including conducting the initial study that described Diamond Blackfan anemia (DBA).

Research underway:

• Our researchers are collecting samples of blood and bone marrow from patients with DBA and other bone marrow failure syndromes in order to pinpoint the specific proteins that are faulty in DBA and how these defects relate to the clinical outcomes of patients.
• Hanna Gazda, MD, PhD, associate scientist in the Division of Genetics, is collaborating with the Diamond Blackfan Anemia Registry to learn more about the genetics and causes of DBA.
• Colin Sieff, MB, BCh, senior associate in the Department of Medicine, is investigating the mechanism of anemia in DBA as well as new approaches to treatment.
• We are sequencing the ribosome genes of children with DBA in order to identify mutations related to the disorder.
• Thus far, we have identified six additional genes that play a role in Diamond Blackfan anemia.
• In collaboration with the Broad Institute of Harvard and MIT, we are sequencing other genes in children with DBA and their families in order to discover additional mutations.
• Stuart Orkin, MD, and Leonard Zon, MD, are working to create iPS cells (induced pluripotent stem cells) from patients with DBA.
• George Daley, MD, PhD, and Suneet Argawal, MD, PhD, are working to model bone marrow failure syndromes, such as DBA, using pluripotent stem cells.
• Researchers in our program are working on new ways to possibly correct the defect associated with DBA and thus cure the disease.

The Diamond Blackfan Anemia Registry of North America (DBAR)? is a national registry, which enrolls individual patients for the purpose of analyzing epidemiological and biological information. It was established in 1993 and continues enrolling DBA patients today.

For more information about current research, visit our Fanconi Anemia & Bone Marrow Failure Multidisciplinary Clinic Page.