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Understanding Diamond-Blackfan Anemia: Causes, Symptoms, Diagnosis, and Treatment Options

Alan Lucks | MD

Medically reviewed by Alan Lucks | MD, Alan Lucks MDPC Private Practice - New York on February 26th, 2024.

Key Takeaways

  • This rare inherited disorder affects approximately 1 in 100,000-200,000 births, with 90% of cases diagnosed before age 1 due to severe anemia requiring immediate medical intervention.
  • Physical abnormalities occur in 30-47% of patients and include growth retardation, cleft palate, heart defects, and characteristic facial features like a "snub nose" and prominent forehead.
  • Mutations in ribosomal protein genes (RPS19, RPS26, RPL5) account for about 65% of identified cases, though genetic testing reveals a causative mutation in only 50% of patients.
  • Corticosteroids like prednisone provide initial response in 80% of patients, but many require chronic transfusions every 3-4 weeks due to steroid dependence or side effects.
  • Bone marrow transplant offers the only cure with 87% survival rates when performed with matched sibling donors, though iron overload from transfusions creates transplant urgency by age 10-15.

Diamond-Blackfan Anemia (DBA) is a rare blood disorder that affects the body's ability to produce red blood cells. Red blood cells are essential for carrying oxygen throughout the body. When the body doesn't make enough red blood cells, it can lead to symptoms such as fatigue, pale skin, and shortness of breath.

Causes of Diamond-Blackfan Anemia

DBA is usually diagnosed in children under the age of one. It is caused by changes or mutations in the genes responsible for red blood cell production. In some cases, the genetic mutation is inherited from a parent, while in others, the genes change on their own. Approximately half of DBA cases have a known genetic cause, while the cause remains unknown in the remaining cases.

Symptoms of Diamond-Blackfan Anemia

People with DBA experience symptoms similar to other types of anemia, including:

  • Fatigue

  • Pale skin

  • Weakness

In addition to these symptoms, some children born with DBA may have physical characteristics such as:

  • Small head

  • Wide eyes and a flat nose

  • Small, low ears

  • Small bottom jaw

  • Short, webbed neck

  • Small shoulder blades

  • Abnormal thumbs

  • Cleft palate or lip

Other symptoms of DBA can include kidney problems, heart defects, eye problems (such as cataracts and glaucoma), and hypospadias in boys (a birth defect where the urinary tract opening is not at the tip of the penis).

Diagnosing Diamond-Blackfan Anemia

Doctors can use several tests to diagnose DBA, usually before a child reaches one year of age. These tests include:

  1. Complete Blood Count (CBC): This blood test measures the number of red blood cells, white blood cells, platelets, hemoglobin, hematocrit, and the size of red blood cells. Children with DBA have a low number of red blood cells but normal white blood cells and platelets.

  2. Reticulocyte Count: This test measures the number of young red blood cells and helps determine if the bone marrow is producing enough red blood cells.

  3. Erythrocyte Adenosine Deaminase (eADA) Levels: Approximately 80% of people with DBA have high levels of the enzyme erythrocyte adenosine deaminase. This test measures eADA levels in the blood.

  4. Fetal Hemoglobin Levels: Many children with DBA have high levels of fetal hemoglobin, which is typically present in babies while in the womb and should drop after birth.

  5. Bone Marrow Aspiration and Biopsy: During this test, a small amount of cells and fluid are removed from the bone marrow with a needle to examine the number and health of red blood cells and other cells in the marrow. Children with DBA will have fewer than normal healthy red blood cells in their bone marrow.

  6. Genetic Tests: These tests check for DBA genes or genes for other types of inherited anemia.

Understanding Diamond-Blackfan Anemia: Causes, Symptoms, Diagnosis, and Treatment Options

Complications of Diamond-Blackfan Anemia

People with DBA have an increased risk of developing certain diseases and conditions, such as:

  • Acute myeloid leukemia (cancer of the blood and bone marrow)

  • Osteosarcoma (bone cancer)

  • Myelodysplastic syndrome (disorders in which the bone marrow doesn't make enough healthy blood cells)

Treatment Options for Diamond-Blackfan Anemia

With proper medical treatment, children diagnosed with DBA can live long lives. Some may even experience complete remission, where symptoms disappear for a period. The two most common treatments for DBA are:

  1. Corticosteroid Drugs: Medications like prednisone can help stimulate the bone marrow to produce more red blood cells.

  2. Blood Transfusion: If steroid drugs are ineffective or the anemia becomes more severe, a blood transfusion can be performed. Whole blood or red blood cells from a healthy donor can replace the blood cells the body isn't producing.

In some cases, a bone marrow or stem cell transplant may be considered. This treatment replaces damaged bone marrow with healthy stem cells from a donor and is the only cure for DBA. However, it carries risks, and finding a matching donor can be challenging. It's essential to discuss all treatment options with a healthcare provider.

For more information on Diamond-Blackfan Anemia, visit the following reputable sources:

The Bottom Line

Early diagnosis before age 1 is critical since delayed treatment can lead to heart failure from severe anemia and iron accumulation from repeated transfusions. Finding a matched donor early allows families to plan optimal timing for potentially curative bone marrow transplant. If your infant shows signs of severe anemia with unusual facial features, Doctronic can help connect you with pediatric hematology specialists quickly.

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