Heart and Blood Conditions

Diamond Blackfan Anemia Symptoms and Diagnosis

What are the symptoms of Diamond Blackfan anemia?

Symptoms can be just like other types of anemia:

  • Pale skin
  • Tired with decreased energy
  • Rapid heartbeat
  • Heart murmurs

Bone and physical characteristics may be present and can include:

  • Short stature
  • Thumb abnormalities
  • Cleft palate
  • Low bone density (osteopenia)
  • Kidney problems
  • Heart problems

Some children show no obvious physical signs of DBA other than anemia, which shows up on a lab test. Some children may have abnormal features in the face, head, hands, kidneys or heart.

How is DBA diagnosed?

To diagnose your child, our team will do one or more of the following:

  • Take a detailed health history, including family history.
  • Examine your child for signs of illness, skeletal abnormalities and other physical characteristics of DBA.
  • Draw and test blood. Lab tests may include:
    • A complete blood count (CBC) that measures how many red blood cells, white blood cells and platelets your child has
    • Genetic screens to rule out other inherited forms of anemia and other disorders, including myelodysplastic syndrome
    • Erythrocyte adenosine deaminase (ADA) levels, which are elevated in around 80% of patients with DBA
  • Get a bone marrow sample. Samples of bone marrow are taken to understand the reason for the marrow failure. Your child will get medicine to make them sleep so that they do not feel pain during the procedure. A small needle is placed into the hip bone to take out a small amount of bone marrow (called an aspiration). Usually, a very small piece of bone is also removed (called a biopsy). With DBA, your hematologist will look for a lack of red blood cell production in the marrow.