FAQ

Diagnosis

What is Diamond Blackfan Anemia?
Diamond Blackfan Anemia (DBA) is a rare blood disorder. In DBA, the bone marrow (the center of the bone where blood cells are made) does not make enough red blood cells that carry oxygen throughout the body.


What causes DBA?
DBA is usually diagnosed during the first year of life. Some people have a family history of the disorder. About one-half of people with DBA have a known genetic cause. In many people with DBA, we do not know the cause.


How many people have DBA?
There are about 25-35 new cases of DBA per year in the United States and Canada.


Can anyone have DBA?
DBA affects both boys and girls equally. It occurs in every ethnic group.


Can other family members have DBA?
Yes, if you have DBA there is up to a 50 percent chance that each of your children will have DBA. Symptoms can be very mild to very severe.


Where did DBA get its name?
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.


What are the signs and symptoms of DBA?
People with DBA have symptoms common to all other types of anemia, including pale skin, sleepiness, rapid heartbeat, and heart murmurs. In some cases there are no obvious physical signs of DBA. About one-quarter of people with DBA have abnormal features involving the face, head, and hands, especially the thumbs. They may also have heart and kidney defects. Many children are short for their age and may start puberty later than normal.


How do doctors know if someone has DBA?
Several tests may be used to tell if a person has DBA. One test your doctor can perform is called a bone marrow aspirate. This is where a needle is inserted into the bone and a small amount of bone marrow fluid is taken out and studied under a microscope. You may also have blood tests to see if there is a genetic basis for DBA or certain chemical abnormalities linked to DBA.


Will iron help reduce the anemia?
No. DBA is not caused by a lack of iron or other nutrients.


How is DBA treated?
To treat very low red blood cell counts in DBA patients, the two common options for treating DBA are corticosteroids and blood transfusions. Bone marrow/stem cell transplantation may also be considered. Some children need no specific therapy. Your doctor will recommend the best treatment for you.


What is corticosteroid treatment?
Corticosteroids are drugs used to treat many medical conditions. One type of corticosteroid is called oral prednisone, one of the most successful treatments for children with DBA.


What are the side effects of corticosteroid treatment?
Major side effects when these drugs are used in high doses for a long time include weight gain, water and salt retention, high blood pressure, muscle weakness, osteoporosis (brittle bones occasionally leading to fractures), 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, including diabetes. Patients on these drugs should be watched carefully.


What is a blood transfusion?
In a blood transfusion, a person receives healthy red blood cells from another person. Transfusions may be needed every 3-5 weeks.


Do blood transfusions have any complications?
Sometimes patients can develop transfusion reactions with fever and rash. Medication may be given before the next transfusion to help prevent these symptoms. Red 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 down normal growth. The amount of iron must be regularly checked. If iron levels are too high, your doctor may recommend drugs to remove excess iron in body tissues. This process is called chelation therapy. People getting transfusions should avoid iron supplements.


What is bone marrow/stem cell transplantation?
Bone marrow/stem cell transplantation replaces a patient’s bone marrow/stem cells with those from a healthy, matching donor.


Are there other treatment options for DBA?
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.


Is Remission a Possibility?
Remissions have occurred in approximately 17% of DBA patients reported to the DBAR. Remissions can occur following both steroid and/or transfusion therapies. DBA patients who are in remission are able to maintain acceptable hemoglobins without steroids and/or transfusions.


Is DBA Genetic?
In most instances, there is only one DBA patient in the family. In these cases, DBA may or may not be genetic. In approximately 10% of 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. Where there is more than one family member affected, DBA is likely genetic in that family. To date, several DBA genes have been identified. RPS19, the most common genetic mutation associated with DBA, is present in approximately ~25% of DBA patients. Other gene mutations that have been identified include RPL5 (~7%), RPL11 (~5%), RPL35a (~3%), RPS26 (~3-6%), RPS24 (~2%), RPS17 (~1%), RPS7 (~1%), RPS10 (~3-6%), RPL19 (unknown), and RPL26 (unknown). Scientists in the United States and worldwide are currently looking for other genetic mutations which may be associated with DBA.



In what activities can a DBA patient engage?
Depending on the patient’s medical condition and his/her doctor’s advice, most patients are encouraged and able to get some form of physical exercise every day. Normal physical activity is generally permitted.