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.
Children and teens with Diamond-Blackfan
anemia (DBA) are treated
at Dana-Farber/Boston Children's through our Bone Marrow Failure 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 treatments and diagnosis, 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.
Diamond-Blackfan anemia is a
genetic disease that affects the body’s ribosomes, which are small cellular
structures that play an important role in building proteins in the body. More
than half of children with DBA have mutations in a ribosomal protein gene, and
mutations at least 11 such genes have been linked to DBA.
In rare cases, DBA in boys can
be due to a mutation in a gene called GATA-1, which controls the earliest steps
of red blood cell production.
Most children experience symptoms very early in life. As a
result, Diamond-Blackfan anemia is usually diagnosed before a child’s first
birthday, though it can appear at any age. The most common symptoms of
Diamond-Blackfan anemia are:
About 40 percent of children with DBA may also have one or
more of the following physical characteristics:
To diagnose Diamond-Blackfan anemia, a child’s physician may
order some or all of the following tests:
After all tests are completed, doctors will be able to
outline the best treatment options.
Treatment of Diamond-Blackfan anemia may include:
Children who receive transfusions may eventually develop iron overload and need to take additional medications (iron chelation therapy) in order to remove excess iron from the body. We also offer special MRI tests that monitor the iron content of the heart and liver during treatment.
The Bone Marrow Failure Program at Dana-Farber/Boston
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:
More about clinical trials
For many children with rare or hard-to-treat conditions, clinical trials
provide new options.
Contact us: If you’re not
sure which clinical trials might be right for your child, email us at firstname.lastname@example.org.
We can help you navigate your options.
Children with Diamond-Blackfan anemia require lifelong
follow-up care to manage symptoms, give therapies such as steroids and blood transfusions, or monitor a child’s health
following a stem cell transplant.
Severe cases of DBA require lifelong treatment for
potentially life-threatening anemia and other complications. New methods are
continually being discovered to improve treatment and decrease side effects of