Frequently Asked Questions
Diamond Blackfan Anemia (DBA) syndrome is a rare bone marrow failure disease. Although DBA syndrome may vary in symptoms patient to patient, the most common finding is that the bone marrow does not make enough red blood cells to carry oxygen throughout the body. To learn more, click here.
DBA syndrome is caused by a genetic mutation most often in a ribosomal protein. A mutation can be found in about 70% of patients, with the remaining patients having no known cause. DBA syndrome is usually diagnosed during the first year of life and some people have a family history of the disorder.
There are about 5-10 cases per million live births or 25-40 infants born with DBA syndrome per year in North America.
DBA syndrome affects both boys and girls equally. It occurs in every ethnic group.
Yes, if you have DBA syndrome there is a 50% chance that each of your children will also have DBA syndrome. Symptoms can vary between family members from very mild to very severe. For more information, click here.
The anemia was named for Dr. Louis K. Diamond and Dr. Kenneth D. Blackfan, the first doctors who documented cases of the disease in the 1930s.
People with DBA syndrome typically have symptoms common to other types of anemia, including pale skin, fatigue, rapid heartbeat, and heart murmurs. In some cases, there are no obvious physical signs of DBA syndrome. About 40-50% of people with DBA syndrome have abnormal features including deformities of the face, head, hands (especially the thumbs), heart, and/or kidneys. Many children are short for their age and may start puberty later than normal. Click here to learn more.
Several tests may be used to diagnose DBA syndrome. The most definitive test is a blood test to see if there is a genetic basis for DBA syndrome. In those without a known mutation, your doctor can perform a bone marrow aspirate or bone marrow biopsy. These tests usually involve inserting a needle into the bone, collecting a small amount of bone marrow fluid or bone marrow itself and studying the sample under a microscope. There are other tests that may be helpful in initial work-up of DBA syndrome and can be found on the Diagnosis page.
No. DBA syndrome is not caused by a lack of iron or other nutrients. To learn more about iron in DBA syndrome, click here.
The two common options for treating the anemia of DBA syndrome are corticosteroids and blood transfusions. Stem cell/bone marrow transplantation may also be considered. Some patients need no specific therapy. Your doctor will recommend the best treatment for you. See the Treatment Options page for more information.
Corticosteroids are drugs used to treat many medical conditions. One type of corticosteroid is called oral prednisone and is one of the most successful treatments for patients with DBA syndrome.
Major side effects of long-term high dose steroids include weight gain, water and salt retention, high blood pressure, muscle weakness, osteoporosis, wounds that won’t heal, headaches, growth problems, eye diseases such as cataracts and glaucoma, and the disruption of hormones that regulate normal body functions causing issues such as diabetes. Patients on these drugs should be monitored carefully. Click here for more information.
A blood transfusion gives a person healthy red blood cells from another person. Transfusions are typically needed every 3-5 weeks.
Sometimes patients can develop transfusion reactions, including fever and rash. Medications may be given before the next transfusion to help prevent these symptoms. Red blood cell transfusions can also cause a build-up of extra iron in the body which can harm the heart and/or liver, cause diabetes, or slow normal growth. The amount of iron in the body must be regularly monitored. If iron levels are too high, your doctor may recommend drugs to remove excess iron in body tissues, through a process known as chelation.
Bone marrow/stem cell transplantation replaces the cells in a patient's bone marrow with those from a healthy matched donor. This is a very involved process which involves intensive chemotherapy and usually several months in the hospital.
Other treatment options are being studied, but to date, none work as well as corticosteroids or transfusion therapy. The goal is to one day find a safe, reliable cure, possibly using gene therapy. But this is still many years away.
Remissions have occurred in approximately 20% of DBA syndrome patients. Remissions can occur following both steroid and/or transfusion therapies. DBA syndrome patients who are in remission are able to maintain acceptable hemoglobin levels without steroids and/or transfusions. To learn more, click here.
No, but DBA syndrome is a cancer predisposition syndrome, meaning that it carries an increased risk of developing cancer and doing so at an earlier age than the general population. See the Cancer Risk page for more information.
DBA syndrome may affect several areas of the body and therefore, individuals with the disorder should see hematologist, endocrinologists, and other specialists in addition to their primary care doctor. For more information, click here.
In most instances, there is only one patient with DBA syndrome in the family. In these cases, DBA syndrome may or may not be hereditary. In some cases, there is more than one affected family member. For example, there could be more than one affected sibling or both a parent and a child affected, in which case, DBA syndrome would be considered hereditary. To date, several DBA syndrome genes have been identified. RPS19, the most common genetic mutation associated with DBA syndrome, is present in approximately 25% of DBA syndrome patients. See the Diagnosis or Genetics page for more details on identified genetic mutations.
Depending on the medical condition of the patient, most patients are encouraged and able to get some form of physical exercise every day. Normal physical activity is generally permitted. There may be some restrictions in contact sports if a patient has a port.
Additional considerations, including vaccinations, pregnancy, growth concerns, and adult patient care can be found here.