Diamond-Blackfan Anemia

Diamond-Blackfan anemia (sometimes called Blackfan, DB anemia or DBA) is a very rare blood disorder. It keeps your bone marrow from making enough red blood cells. You need red blood cells to carry oxygen throughout your body.

DBA is a genetic disorder that happens when certain genes have variations (changes). Those genetic changes determine what kind of symptoms you have and whether those symptoms are mild or severe.

Almost everyone with DBA has anemia, and some also have other health issues that affect daily life. Over time, there’s also a higher risk of certain cancers, especially leukemia.

DBA affects around 1 in 500,000 babies. It’s a lifelong condition, but treatment can manage symptoms and improve your quality of life.

Symptoms of Diamond-Blackfan anemia?

Diamond-Blackfan anemia symptoms range from mild to severe and may include:

• Fatigue
• Headache
• Loss of appetite
• Rapid heartbeat (tachycardia)
• Shortness of breath
• Skin paleness (pallor)
• Swelling in your hands and feet
• Weakness

Diamond-Blackfan anemia causes

Diamond-Blackfan anemia happens when there’s a change in your ribosomal protein genes. Your ribosomal protein genes make red blood cells. The changes cause a decrease in red blood cell production, leading to anemia.

Between 10% to 25% of people with DBA inherit it from their biological parents. Most cases occur in people with no family history of the condition.

Complications of this condition

Possible complications of Diamond-Blackfan anemia include:

• Birth defects: Issues with the heart, kidneys, or limbs
• Growth faltering: Slower-than-expected growth
• Iron overload: From repeated blood transfusions
• Neutropenia: Low levels of neutrophils, a type of white blood cell
• Pancytopenia: Low levels of all blood cells
• Thrombocytopenia: Low platelet count

If you have DBA, you have a slightly increased risk of developing these conditions:

• Acute myeloid leukemia (AML)
• Myelodysplastic syndrome (MDS)
• Osteosarcoma
• Other tumors

How doctors diagnose this condition

Healthcare providers may use several tests to diagnose this condition:

• Complete blood count (CBC): This test measures hemoglobin, red and white blood cells, and platelets.
• Reticulocyte count: This checks immature red blood cells. A low count suggests bone marrow problems.
• Bone marrow aspiration and biopsy: This collects bone marrow samples to look for low red blood cell production.

How is Diamond-Blackfan anemia treated?

Treatments for DB anemia, from most to least common, include:

• Corticosteroids. These medications help your bone marrow make more red blood cells.
• Blood transfusion. This treatment uses donated red blood cells to boost your levels. Healthcare providers usually start blood transfusions immediately after diagnosis.
• Stem cell transplant from family members or an unrelated donor. This is the only known cure for Diamond-Blackfan anemia. But it can potentially cause several life-threatening complications. Healthcare providers consider this option on a case-by-case basis.

How soon after treatment will I feel better?

Steroids typically help within two to four weeks. Blood transfusions usually bring fast relief.

Everyone’s different, so ask your provider what to expect in your case.

What’s the outlook for Diamond-Blackfan anemia?

With treatment, the outlook is good, but it requires lifelong care and monitoring. Your risk of serious complications increases around age 25.

Diamond-Blackfan anemia life expectancy

How long someone lives with DBA depends on their symptoms and treatment. Research shows that about 75% of people with DBA are alive at age 50. But because it’s rare, data is limited. Your provider can offer more personalized information.

When should I see my healthcare provider?

If you have Diamond-Blackfan anemia, you’ll need to stay in close communication with your healthcare provider. See them for routine check-ups.

You should also tell your provider if your symptoms get worse. For instance, if you’re suddenly more tired all the time or have had several recent infections, let them know.

Call 911 or head to your nearest emergency room if you develop:

• Chest pain
• Severe belly pain
• Sudden headache or confusion (stroke signs)
• Uncontrolled bleeding