Overview of Diamond Blackfan Anemia

woman holding her newborn on her chest
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Diamond Blackfan anemia (DBA) is a rare blood disorder in which the body's bone marrow does not make enough red blood cells to carry oxygen throughout the body. DBA affects approximately 600 to 700 people worldwide. It is a potentially life-threatening condition that can cause severe anemia, hence patients require ongoing medical management by experienced hematologists.

Symptoms

Diamond Blackfan anemia is present at birth but can be difficult to identify. In about one-third of children born with the disorder, there are physical defects such as hand deformities or heart defects, but a clear set of signs hasn't been identified. The symptoms may also vary greatly, from very mild to severe and life-threatening.

Red blood cells carry oxygen throughout the body, so a child with DBA may have symptoms related to not enough blood oxygen (anemia):

  • Pallor (paleness)
  • Irregular heartbeat, due to the heart trying to keep oxygen moving throughout the body
  • Fatigue, irritability, and fainting.

Causes

The cause of DBA is unknown, although a genetic error in a gene called RPS19 on chromosome 19 is associated with about 25% of cases. In about 10% to 20% of cases, there is a family history of the disorder.

Other names for Diamond Blackfan anemia include:

  • Blackfan Diamond syndrome
  • Congenital pure red cell aplasia
  • Congenital hypoplastic anemia
  • Aase syndrome (thought to be a subset of DBA in which there is a finger-like thumb, and not a distinct disorder)

Diagnosis

Diamond Blackfan anemia is usually diagnosed within the first two years of life, sometimes even at birth, based on symptoms. A baby might be suspected of having anemia if he or she is always pale and gets short of breath when drinking a bottle or nursing. Because the disorder is extremely rare and few physicians are familiar with it, it can take some time to arrive at a correct diagnosis.

A complete blood cell count (CBC) would show a very low number of red blood cells as well as low hemoglobin. Another blood test would show high adenosine deaminase activity (ADA).

A bone marrow sample (biopsy), removed under general anesthesia, would show that few new red blood cells were being created.

Other tests, including additional blood tests or genetic tests, may be ordered to rule out other types of anemia or other disorders.

Treatment

Treatments for Diamond Blackfan anemia include:

Steroid Medications

Steroids, usually prednisone, is the first-line treatment for DBA. About 70% of children with DBA will respond to this treatment, in which the medication stimulates the production of more red blood cells. However, this means that the child will have to take steroid medication for the rest of his or her life, which has serious side effects such as diabetes, glaucoma, bone weakening (osteopenia), and high blood pressure. Also, the medication may suddenly stop working for the person at any time.

Blood Transfusions

If someone doesn't respond to steroid medication or needs too high a dose to keep his/her red blood cell count up, blood transfusions are necessary. Regular blood transfusions will provide red blood cells but can also lead to too much iron in the body. Normally, the body uses the iron when making new red blood cells, but since someone with Diamond Blackfan anemia isn't making many cells, the iron builds up. The person then needs to take medication that takes the excess iron out of the body; this is called chelation therapy. Two chelation drugs have been approved: Exjade (defarasirox) and Desferal (deferoxamine).

Stem Cell Transplant

The only potential cure available for Diamond Blackfan anemia is stem cell transplantation, which replaces the person's defective bone marrow with healthy cells from a donor. The donor’s stem cells can be obtained from bone marrow, peripheral blood, or cord blood. This is a complicated medical procedure that requires several months in the hospital and is not without risk. The reward for a successful SCT is that the patient’s bone marrow should function normally and the patient will not need chronic blood transfusion therapy or steroid medication. It is usually reserved for people whom steroid medications and blood transfusions don't help.

A Word From Verywell

Finding out your child has DBA can be upsetting, but people with DBA can live long, healthy, active lives if they get good medical care and pursue a healthy lifestyle. Approximately 20% of those affected with DBA have a chance of going into spontaneous remission, which means no steroids or transfusions are required for six months or more. It is possible to go in and out of remission at any point in your life.

Finally, research continues to be done on potential treatments for DBA, and you may want to look into the possibility of enrolling in a clinical trial.

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