Diamond-Blackfan Anemia

DBA disrupts how your body makes red blood cells. And this affects everyone differently.

It’s not unusual to always feel tired (fatigued) or look pale. You may also feel short of breath. And maybe you didn’t grow as tall as other kids. Or you may have a smaller head. Your thumbs might be misshapen or even missing. All are common signs of DBA.

This type of anemia also can cause problems with internal organs. DBA is essentially a hereditary form of pure red cell aplasia (PRCA) and associated with bone marrow failure. People with DBA have a greater chance of having a heart condition called atrial septal defect. Or they may have a horseshoe-shaped kidney that doesn’t work as it should.

We typically diagnose Diamond-Blackfan anemia within the first few months after birth. About 45% percent of people with DBA inherit it from a parent. This means the parent passes along a changed gene (mutation) at conception.

Researchers aren’t entirely sure why people who don’t inherit DBA from a parent get it. But we think it starts from genetic changes in proteins in the body after birth. On rare occasions, symptoms may not even show up until adulthood.

No matter if DBA is inherited or develops later (acquired), one thing is certain. The earlier the diagnosis, the sooner we can craft a lifelong care plan for you. One that lets you move forward into adulthood with the continuous care you deserve.

Meet Our Diamond-Blackfan Anemia Team

Managing lifelong conditions like Diamond-Blackfan anemia means you’ll have a lot of appointments — and most likely see a lot of different healthcare providers. Cleveland Clinic makes this easy for you. We believe in team-based care. So, when you come to us, you’ll get a personalized care team of providers based on your needs. This may include:

• Hematologists.
• Primary care providers.
• Radiologists.
• Endocrinologists.
• Ophthalmologists.
• Cardiologists.
• Geneticists.
• Bone marrow transplant specialists.

This team works together to make sure you have the best treatment. And they make sure it continues to work for you — through regular checkups and testing.

Whether you were diagnosed with DBA right after birth, in childhood or in adulthood, you’ll need lifelong medical care to manage it. This includes regular testing and visits with your healthcare providers.

What to expect at your appointments

When you come to your regular checkups with your care team, you’ll spend some time talking with us. We’ll ask you how you feel and if you’ve noticed any new symptoms. You can expect to have a physical exam and get orders for routine tests.

Regular testing helps us keep an eye on your health. You’ll have a mix of blood tests, tests to check your bone marrow (which makes blood cells) and imaging tests, like:

• Complete blood count to see how many of each type of blood cell you have.
• Reticulocyte count to see how many young (immature) red blood cells are in your body.
• Ultrasound, MRI or CT scans to take a closer look at what’s going on with your organs and bones.
• Echocardiogram (Echo) to check how your heart is working.
• Genetic testing to look for gene mutations.

If you show new signs of DBA symptoms (recurrence), we may do one or two tests on your bone marrow. A bone marrow aspiration lets us check the fluid around your bone marrow for abnormal cells. A bone marrow biopsy tests the spongy bone marrow tissue for abnormalities.

Not everyone needs treatment for DBA. If your symptoms are very mild, ongoing management may be all you need. But, if your care team discovers that your DBA is coming out of remission, we’ll create a treatment plan that focuses on your needs.

You may only need a short course of treatment to make DBA go into remission (temporarily go away). Or you may need a combination of therapies, like:

Corticosteroids or anabolic steroids

These drugs can help reverse the effects of DBA by letting your bones make red blood cells normally. You may need to take corticosteroids or anabolic steroids daily for the rest of your life.

Red blood cell transfusions

A blood transfusion gives your body a boost of red blood cells. Your provider may recommend a blood transfusion if corticosteroids or anabolic steroids aren’t a possibility, don’t work or cause unwanted side effects. Your care team will go over your treatment schedule and other important things you should know about transfusions before starting treatment.

Stem cell transplant

We may recommend a stem cell transplant only if other treatments don’t work. We specialize in this complex treatment, which replaces immature red blood cells with healthy ones from a donor.

A stem cell transplant is a lengthy treatment. And it means you’ll need to stay in the hospital for about a month. You’ll stay on a patient floor that’s only for transplant patients. And you’ll find everything you need to make your stay as comfortable as possible — including food prep, exercising and laundry areas.

Taking the Next Step

Living with a chronic condition like Diamond-Blackfan anemia keeps you on alert. And it may seem like you’re always looking for new signs and symptoms. It can be a lot to process. When you have an expert team on your side, you don’t have to keep track of your health alone. Cleveland Clinic’s healthcare providers are here to help you manage your DBA care. And find the best ways to support you as you balance your condition and living an active life.