Diamond Blackfan Anemia (DBA) is a blood condition, present at birth, which is characterized by a failure of the bone marrow to produce red blood cells. By itself, the term "anemia" means low red cell counts. Unlike other types of anemia, DBA is a bone marrow failure syndrome and occurs when the bone marrow fails to make adequate numbers of red blood cells. Red cells are important to the body as they carry oxygen to cells and tissues.
DBA has also been linked to a genetic mutation in some individuals. Severe anemia is frequently found at birth with most children diagnosed with DBA before their first birthday.
Who is affected by Diamond Blackfan Anemia?
DBA effects boys and girls equally, and it's reported in virtually all ethnic groups. It is a rare disease that affects approximately 5-7 children per one million.
What causes Diamond Blackfan Anemia?
Currently, there is no known cause for this disorder. Scientists at Children's and elsewhere are currently studying the genes involved in DBA to learn more about its causes.
What are the symptoms of Diamond Blackfan Anemia?
Symptoms of DBA largely include the side effects of anemia, such as:
pale skin
decreased energy/sleepiness
breathing difficulty
tiring during feeding in infants
physical characteristics such as short stature and head, face, neck, and thumb malformations, which are found in 30 - 50 percent of patients with DBA.
How is Diamond Blackfan Anemia diagnosed?
In addition to a complete history and physical examination, other diagnostic tests are used to aid in the diagnosis of DBA. Initially, blood work is performed to evaluate the degree of anemia and examine other body systems. One particular blood test called the red cell ADA (adenosine deaminase) is usually present at elevated levels in patients with DBA. In addition to blood tests, samples of bone marrow (Bone Marrow Aspirate and Biopsy) are taken to examine all of the blood cell lines (red cells, white cells, and platelets), genetic make up of the bone marrow, and the physical architecture of the bone marrow.
What is the treatment plan for Diamond Blackfan Anemia? Is there a cure?
Specific treatment for DBA and its complications will be determined by your child's physician based on:
Your child's age, overall health, and medical history
Extent of the disease
Your child's tolerance for specific medications, procedures, or therapies
Expectations for the course of the disease
Your opinion or preference
Treatment options may include, but are not limited to, the following:
Steroid therapy. This involves taking oral corticosteroids in liquid or pill form. The medicine is usually taken every day or every other day in divided doses. Corticosteroids are different from the more familiar androgenic steroids (like testosterone) that are sometimes taken to increase muscle mass. The goal of the therapy is to increase the hemoglobin, or red blood cells. Side effects of steroids include, but are not limited to: upset stomach, increased appetite, weight gain, unstable blood sugars, increased blood pressure, decreased height, and susceptibility to infection. However, in many patients with DBA the effective dose of corticosteroids is low enough that few or no side effects are observed.
Red Blood Cell transfusions. This requires the insertion of an IV needle or a more permanent access device such as an Infuse-A-Port in order to deliver the blood to the patient. Transfusions take 2-4 hours and are given at the hospital or at outpatient transfusion centers. Side effects of red blood cell transfusions include, but are not limited to: fever, headache, hives, allergic reaction, infection, and iron overload. Blood transfusions may be repeated every 4-8 weeks, depending on the patient. Blood transfusions are used when anemia is unusually severe or when the response to corticosteroid therapy is inadequate.
Bone Marrow Transplant. At present, this is the only cure for DBA. Bone marrow transplant involves the replacement of diseased bone marrow with another person's healthy bone marrow. The decision to proceed with bone marrow transplant should be discussed with your child's Hematologist and a Bone Marrow Transplant Team.
Additional treatment alternatives are currently being studied.
What is the latest research on Diamond Blackfan Anemia?
The Bone Marrow Failure Program at Children's Hospital Boston
In addition to providing information and access to local and national research initiatives, this outpatient clinic offers multidisciplinary care (physician specialists, dentists, nurse practitioners, social workers) and consultative services for patients with inherited (genetic) and acquired bone marrow failure syndromes, including Diamond Blackfan Anemia. This clinic is part of the outpatient Hematology service and functions in conjunction with Dana Farber Cancer Institute and the Bone Marrow Transplant service.
Research on DBA at The Manton Center for Orphan Disease Research
Scientists in the Genetics Division at Children?s Hospital are actively collecting samples of blood and bone marrow (voluntary) 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. For more information, click here.
The Diamond Blackfan Anemia Registry of North America (DBAR)
A national repository, or database, which enrolls individual patients (voluntary) for the purpose of analyzing epidemiological and biological information. It was established in 1993 and continues enrolling patients today.
Children's Hospital and Dana Farber Cancer Institute
Scientists are actively collecting samples of blood and bone marrow (voluntary) 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.
Crossing continents for answers
For Hanna Gazda, MD, PhD, associate scientist in Genetics at Children's Hospital Boston, the unpredictable trajectory of her life was triggered by a simple question to which she had no answer.
Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School
Diamond Blackfan Anemia
