Diamond Blackfan Anemia (DBA) in Children
Overview
Diamond Blackfan anemia (DBA) is a
rare blood disorder. Children with DBA don't 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.
Causes
DBA may be passed down through
families. About half of children with this disorder have a gene defect. In the other
half, no gene defects are found and the cause isn't known.
Symptoms
Most of the time, symptoms of
anemia appear by the time a child is 2 months old. Symptoms may range from mild to
severe. They include:
- Pale skin
- Sleepiness
- Being grouchy (irritability)
- Rapid heartbeat
- Heart murmur
- Physical defects of the face, head,
neck, hands and arms, kidneys, penis, and heart
- Low birth weight
Diagnosis
The diagnosis of DBA is often made
in the first year of life. It's diagnosed based on symptoms, and on the results of
blood
and bone marrow testing.
Anemia is diagnosed with:
-
Hemoglobin
and hematocrit.
This blood test 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 results 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
- 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.
Treatment
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 live well into adulthood.
Many more adults now are living with the disease.
Specialists treat children with
DBA. Your child's healthcare provider may advise seeing a blood specialist
(hematologist), or a gene specialist (geneticist), 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
the 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 symptoms of anemia have
disappeared for more than 6 months. Remission can last for many years and can even
be
lasting (permanent). If symptoms come back after remission, it's called relapse.
Complications
Complications of DBA include:
- Slow or delayed growth
- Problems with pregnancy
- Problems related to physical defects
(for instance, heart problems)
- Leukemia and other cancers
Some complications from the
treatment of DBA include:
-
Problems from long-term steroid
use.
These can include osteoporosis, weight gain, high blood pressure, and
diabetes.
-
Iron overload. This is a
complication of blood transfusions. It can affect the heart and liver.
Living with
Your child will be watched very
closely. They'll 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 they get what's 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 to Call a Healthcare Provider
You know your child better than
anyone else. If you're in doubt or if you have questions or concerns, it's best to
contact their provider.
And, work closely with your child's
provider to know what to report. It depends on your child's age, treatment, and other
factors. For instance, the 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
- DBA is a rare blood disorder in which
children don't make enough red blood cells. These are the cells that carry oxygen
to
all other cells in the body.
- About half of children with DBA have a
genetic mutation. Genetic counseling is advised.
- It's often 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.
Next Steps
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.