Diamond Blackfan Anemia (DBA) in Children
What is DBA in children?
Diamond Blackfan anemia (DBA) is a rare blood disorder. Children with DBA do not make enough red blood cells. These cells carry oxygen to all other cells in the body.
Blood cells are made in the bone marrow, the spongy insides of long bones. In children with DBA, many of the cells that would have become red blood cells die before they develop.
What causes DBA in a child?
DBA may be passed down through families. About 50% of children with this disorder have a gene defect. In the other 50% of children with DBA, no gene defects are found and the cause is not known.
What are the symptoms of DBA in a child?
Most of the time, signs or symptoms of anemia appear by the time a child is 2 months old. Symptoms may range from mild to severe. They include:
- Signs and symptoms of anemia:
- Pale skin
- Rapid heartbeat
- Heart murmur
- Other signs of DBA include:
- Physical defects of the face, head, neck, hands and arms, kidneys, penis in males, and heart
- Low birth weight
How is DBA diagnosed in a child?
The diagnosis of DBA is usually made in the first year of life. It is diagnosed based on the signs and symptoms, and on the results of blood and bone marrow testing.
Anemia is diagnosed with:
- Hemoglobin and hematocrit. This measures the amount of hemoglobin and red blood cells in the blood.
- Complete blood count (CBC). This test checks the red blood cells, white blood cells, and blood clotting cells (platelets). It sometimes checks young red blood cells (reticulocytes). It includes hemoglobin and hematocrit and more details about the red blood cells.
- Peripheral smear. A small sample of blood is checked under a microscope to see if the cells look normal or not.
- Bone marrow analysis. A sample of bone marrow cells is taken and examined.
Diagnosis of DBA is based on these 4 findings from a complete blood count (CBC) and bone marrow biopsy:
- Anemia before 1 year of age
- Red blood cells are larger than normal (macrocytic anemia)
- Low reticulocyte count, which are new red blood cells
- Normal bone marrow sample, with only a few cells that will develop into red blood cells
Other lab tests may also be abnormal. And genetic testing may show gene defects or changes.
How is DBA treated in a child?
Treatment may include medicines, blood transfusions, and bone marrow transplant. DBA was once thought of as a children’s disease. But with more successful treatments, many children survive well into adulthood. Many more adults now are living with the disease.
Specialists treat children with DBA. Your child's healthcare provider may recommend a hematologist, a blood specialist or a geneticist, a gene specialist, or other experts. DBA is treated with:
- Corticosteroid or steroid medicines. Steroids improve red blood cell counts in about 80% of people with DBA. Steroids are strong medicines with some serious side effects. Your child's provider will watch for side effects and use as low a dose as possible.
- Blood transfusions. Donor blood may be given every 4 to 6 weeks to increase red blood cell count.
- Stem cell transplant. Stem cells are cells in the bone marrow that can become all types of blood cells. First a matched donor is found. This is usually a close family member. Then the donor’s stem cells are given to the person with DBA. A stem cell transplant may cure DBA. But rejection or infection is possible. These risks are serious. So stem cell transplant is usually not done unless steroids or blood transfusions don’t help.
About 20% of people with DBA go into remission after treatment. Remission means that the signs and symptoms of anemia have disappeared for more than 6 months without any treatment. Remission can last for many years and can even be permanent. If symptoms come back after remission, it is called relapse.
What are the complications of DBA in a child?
Complications of DBA include:
- Slow or delayed growth
- Problems with pregnancy
- Problems related to physical defects (for example, heart problems)
- Leukemias and other cancers
Some complications from the treatment of DBA include:
- Osteoporosis, weight gain, high blood pressure, and diabetes are complications of long-term steroid use.
- Iron overload, which can affect the heart and liver, is a complication of transfusions.
How can I help my child live with DBA?
Your child will be watched very closely. He or she will have:
- Frequent physical exams and lab tests
- More frequent screenings for cancer
- Genetic counseling, for you, your child, and other brothers and sisters. This is very important before any pregnancy.
Severe anemia in a child affects the whole family. You should:
- Learn as much as possible about DBA
- Work closely with your child's healthcare provider
- Help your child take part in school, social, and physical activities
- Work closely with your child’s school to make sure he or she gets what is needed. Your child may also qualify for special programs under Section 504 of the Rehabilitation Act of 1973.
- Try to keep your child's life as normal as possible
- Remember to also pay attention to other children in the family
When should I call my child's healthcare provider?
You know your child better than anyone else. If you are in doubt or if you have questions or concerns, it is best to contact his or her provider.
And, work closely with your child's healthcare providers to know what to report. It depends on your child's age, treatment and other factors. For example, your child's provider will tell you what to watch for if your child has had a stem cell transplant. Or if your child is taking a certain medicine, the provider will tell you what side effects may occur.
Key points about DBA in children
- DBA is a rare blood disorder in which children do not make enough red blood cells. These are the cells that carry oxygen to all other cells in the body.
- About 50% of children with DBA have a genetic mutation. Genetic counseling is advised.
- It is usually diagnosed during the first year of life with blood and bone marrow tests.
- DBA is treated with corticosteroids and blood transfusions.
- Stem cell transplants offer a cure for DBA.
Tips to help you get the most from a visit to your child’s healthcare provider:
- Know the reason for the visit and what you want to happen.
- Before your visit, write down questions you want answered.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
- Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
- Ask if your child’s condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if your child does not take the medicine or have the test or procedure.
- If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
- Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.
April 22, 2017
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Vlachos, A. British Journal of Haematology. 2008, is. 142, ed. 6, pp. s859-76.
Adler, Liora C., MD,Walton-Ziegler, Olivia, MS, PA-C