What Is Diamond Blackfan Anemia?
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Medically reviewed by Archana Sharma, DO
Diamond Blackfan anemia (DBA) is a rare genetic condition that causes severe anemia (a lack of healthy red blood cells), beginning in early infancy. In certain cases, DBA may also be the cause of congenital birth defects (or structural changes in your body that are present at birth). Statistics currently estimate that about seven out of every 1 million babies are born with DBA.
DBA is a lifelong disorder and managing the condition can be a challenge. The most common treatment options for this condition are corticosteroids and blood transfusions. Unfortunately, these treatments don't work for everyone and come with their own set of side effects. That said, researchers are still working to find more advanced treatments.
Did You Know?
Diamond Blackfan anemia gets its name from Louis Diamond and Kenneth Blackfan—the two doctors who first described the condition in 1938. Both physicians practiced pediatric hematology, which is the field of medicine that studies blood disorders in children.
Symptoms
Symptoms of DBA usually first appear in early infancy. If your baby develops DBA, they may experience:
Anemia, or a lack of healthy red blood cells
Pale skin
Difficulty sucking
Being underweight
It's worth noting that about 50% of people with DBA are born with congenital defects. While birth defects can vary from person to person, common birth defects may include a cleft palate or a clubbed thumb. Many people born with DBA often have a small stature and don't grow as big as peers their age.
Causes
DBA is a genetic condition, meaning it occurs due to a mutation (change) in your genes. With DBA, a gene mutation affects your bone marrow and makes it difficult for your body to produce as many red blood cells. As a result, symptoms of DBA like anemia, fatigue, and growing problems can occur.
Researchers still aren’t sure why the specific mutations found in DBA lead to symptoms. But, some experts theorize that a problem with your ribosomes (small particles inside your cells that help make proteins) plays a role. More research is still needed to understand the underlying biological cause of this condition.
Diagnosis
Because DBA can often be present at birth or early infancy, your healthcare provider will conduct several tests before making a proper diagnosis. It's important for your provider to rule out other causes of anemia that could be causing your baby's symptoms (such as iron deficiency anemia or anemia due to a viral infection).
During the diagnostic process, your provider will ask about your family history and conduct a physical exam on your child. They may also order one or more of the following tests to help with diagnosis:
Complete blood count (CBC) to test the number and quality of red blood cells
Bone marrow aspirate, which takes a sample of your bone marrow to see if red blood cells are being made normally
Erythrocyte adenosine deaminase activity or fetal hemoglobin tests to check for specific enzyme levels that are usually higher for people with DBA
Genetic testing to confirm a diagnosis of DBA
Treatment
If you or your baby have a diagnosis for DBA, the primary goal of treatment is to reduce symptoms and make living with the condition more manageable. Several treatments can help, and your exact treatment plan will depend on your symptoms and overall health.
Corticosteroids
About 50% of people with DBA take corticosteroid drugs such as Deltasone (prednisone) to treat anemia. Long-term use of corticosteroids is often necessary to keep anemia from returning. However, children under the age of one should not take steroids. However, side effects of corticosteroids for DBA may include weak bones, a higher risk of diabetes, and a weakened immune system.
Blood Transfusions
Blood transfusions can replace the red blood cells that your body isn't able to make properly. Most infants with DBA will need transfusions before the age of one until they can start taking corticosteroids to manage their condition.
For people who can't take steroids or whose bodies don't respond well to corticosteroids, blood transfusions may be necessary. Fortunately, transfusions are a very effective treatment option for DBA. But, you will likely need repeated or regular transfusions to keep symptoms at bay.
Iron Chelation Therapy
Most people who need regular blood transfusions for DBA also require iron chelation therapy. Blood transfusions can often cause excess iron buildup in your red blood cells, which can cause a condition called hemochromatosis (or, iron overload). Too much iron is not good for your body and can cause damage to your heart, brain, and liver. So, iron chelation therapy helps you safely lower your iron levels to prevent complications from occurring.
Hematopoietic Stem Cell Transplant
Hematopoietic stem cell transplant is also an option for some people, especially for those who can't use corticosteroids or find other treatments ineffective. During a stem cell transplant, your provider will use strong medications to eliminate the cells that don't make red blood cells properly. Then, they receive stem cells from a donor and inject them into your body. These stem cells can help make normal red blood cells in your body for the rest of your life.
A stem cell transplant is the only treatment option available that can cure DBA. However, these types of transplants carry a greater risk of serious side effects, such as thyroid problems, damage to the lungs and bones, and recurring infections.
It's also worth noting that stem cell transplants aren't always accessible to everyone. First, the cost of these treatments can be very expensive. One study found that a hematopoietic stem cell transplant can cost anywhere from $36,000 to $88,000. Additionally, some people may not find a suitable stem cell donor, since not everyone is a good match.
Other Treatments
Some people with DBA also may need treatment for congenital defects. Treatment usually involves some sort of surgery which will depend on the exact defect you or your baby have (e.g., heart surgery for an infant born with a congenital heart defect).
Children who have short stature or have development problems with growth may also need to take growth hormone medications to help their bodies develop. If your provider recommends growth hormones, they may ask you to limit your use of corticosteroid drugs.
Prevention
Unfortunately, DBA isn't preventable because it's a genetic condition that is present at birth. However, if you have DBA and are trying to conceive, it may help to work with a genetic counselor or reproductive specialist to learn more about the condition, test your fetus for DBA, and understand the treatment options available to provide a healthy life for your baby.
Related Conditions
Having a DBA diagnosis can also increase your risk of other related conditions and symptoms. These conditions include:
Bone marrow cancer
Additionally, if you take corticosteroids, long-term use may cause:
Cataracts
High blood sugar
Mood changes
Delayed puberty
Weakened immune system
Living with Diamond Blackfan Anemia
It can be overwhelming or worrisome to learn that your child has a serious condition like DBA. It's also worth noting that however you're feeling is valid. Keep in mind: managing a long-term condition like DBA can be challenging and require a lot of time and energy.
But it's important to remember that people with DBA can have fulfilling lives and many live an average lifespan. To help you or your child have the best possible outcomes, it's a good idea to keep in touch with your healthcare provider to learn which treatment options are right for you.
Frequently Asked Questions
How long can you live with DBA?
With treatment, people with DBA often live an average lifespan. However, DBA can increase the risk of other conditions like cancer, which may lower one's life expectancy.
Does Diamond-Blackfan anemia stunt your growth?
A majority of people with DBA have delayed growth or short stature. Long-term steroid treatment, untreated anemia, or elevated iron levels can all also further stunt growth.
Is there a cure for DBA?
Hematopoietic stem cell transplant can potentially cure DBA. However, it’s not an option for everyone, because donors aren't always available and the cost of treatment isn't accessible for most people.
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