Heart and Blood Conditions

Diamond-Blackfan Anemia

What is Diamond-Blackfan anemia?

In Diamond-Blackfan anemia (DBA), the bone marrow (soft center part of most bones) does not make enough red blood cells. It is a type of marrow failure disorder.

Red blood cells carry oxygen from the lungs to all parts of your body. A low level of red blood cells is called anemia. In anemia, the body’s organs may not get enough oxygen. How serious anemia is varies from child to child with this illness. It can change over time.

Children with this condition can have healthy, active lives. But they need care from a blood specialist (hematologist) with experience in marrow failure conditions. They also need a team that can treat health problems DBA may cause. Our Bone Marrow Failure Program brings together many different types of healthcare providers to care for your child.

  • Changes in genes (mutations) are found in at least half of people with Diamond-Blackfan anemia. The abnormal genes affect how bodies make proteins.

    Doctors and scientists are working to find other genetic changes that may cause the condition.

    Usually, Diamond-Blackfan anemia is diagnosed before a baby is 1 year old. Sometimes it is found later in life.

Diamond-Blackfan Anemia at Seattle Children’s

Many families have never heard of Diamond-Blackfan anemia before their child develops it. Experts at our Bone Marrow Failure Program have lots of experience caring for children and teens with this condition. We work with many children and families from around the Northwest and beyond.

The Bone Marrow Failure Program is part of our Cancer and Blood Disorders Center. Please contact the center at 206-987-2106 for more information, a second opinion or to make an appointment.

  • Our doctors are nationally known for treating children who have blood disorders.

    We offer a full range of services for children with Diamond-Blackfan anemia. Your child may need steroid medicines, transfusions of red blood cells or a transplant of blood-forming stem cells.

    Diamond-Blackfan anemia sometimes causes problems with the bones, heart, kidneys, hormones or ability to fight infection (immune system). It raises the risk of some cancers. Seattle Children’s Bone Marrow Failure Program has experts in treating blood disorders as well as other body systems. Your child will get care as needed from doctors who diagnose and treat problems related to:

    We care for your whole child — not just their disease. Your family has a whole team behind you. Your child may get care from specialists in nutrition, pain management, social work, physical therapy, psychiatry and emotional health. Read more about the supportive care we offer.

  • Some children can be cured of Diamond-Blackfan anemia by having a transplant of blood-forming stem cells from a healthy donor.

    Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer conditions, including Diamond-Blackfan anemia. Our transplant team is very experienced in preparing children with marrow failure for stem cell transplant and helping them recover without serious side effects. Our team developed many of these special treatments, called reduced-intensity conditioning.

    See details on the number of stem cell transplants we do each year and survival rates for children who receive them.

    We work closely with our partner Fred Hutch to do the transplants. More than 30 years ago, Fred Hutch pioneered stem cell transplants to treat blood disorders.

    Through our partnership in Seattle Cancer Care Alliance (SCCA), our patients who need stem cell transplants have access to promising new therapies offered only in research studies. These studies are called clinical or therapeutic trials. They may involve new reduced-intensity conditioning or options for children who do not have good donor choices.

  • Our specialty is treating children’s conditions while helping them grow up to be healthy and productive.

    Children don’t react to illness, injury, pain and medicine in the same way as adults. They need — and deserve — care designed just for them.

    Our doctors have special training in how to diagnose and care for children with blood conditions. The doctors who guide your child’s care are board certified in pediatric hematology-oncology. This means they are approved to give the special care your child needs and they constantly expand their knowledge about blood disorders.

    Our experts base their treatment plans on years of experience and the newest research on what works best — and most safely — for children.

  • We belong to national and international research groups that work to improve care and find cures for blood disorders. One such group is the North American Pediatric Aplastic Anemia Consortium (NAPAAC). It supports patients and families with bone marrow failure.

    Our doctors and researchers are working hard to:

    • Reduce complications and side effects for children who need stem cell transplants
    • Understand how the body makes and balances blood cells and how this may contribute to DBA
    • Improve treatments for children with blood conditions
    • Find the causes of Diamond-Blackfan anemia

    Learn more about Diamond-Blackfan anemia research at Seattle Children’s.

Symptoms of Diamond-Blackfan Anemia

Many children with Diamond-Blackfan anemia have these symptoms. They are caused by low levels of red blood cells:

  • Pale skin
  • Low energy
  • Fast heartbeat
  • Unusual sound heard during a heartbeat (heart murmur)

Some children also have these differences in their bones or other parts of their body:

Diagnosing Diamond-Blackfan Anemia

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

  • Ask about the health of your child and family members.
  • Check your child for signs of illness, differences in their bones and other physical signs of Diamond-Blackfan anemia.
  • Draw and test blood. Lab tests may include:
    • A complete blood count (CBC). This measures how many red blood cells, white blood cells and platelets your child has.
    • Genetic tests to confirm the diagnosis of Diamond-Blackfan anemia or to rule out other conditions.
    • Measuring levels of erythrocyte adenosine deaminase (ADA). This enzyme is higher than normal in 80% of children with Diamond-Blackfan anemia.
  • Get a sample of bone marrow. This helps us understand the reason for your child’s marrow failure. A blood specialist will look at how well your child’s marrow is making red blood cells.
    • Your child will get medicine to make them sleep (anesthesia) so they do not feel pain during the procedure.
    • Your child’s doctor will place a hollow needle into the hip bone and suck out (aspirate) a small sample of liquid bone marrow. Then the doctor pushes a larger needle into the bone to remove a small amount of bone containing marrow (called a biopsy).
  • Take X-rays or do an ultrasound to look for bone or kidney problems that sometimes happen in children with Diamond-Blackfan anemia.

Treating Diamond-Blackfan Anemia

Our goals are to achieve the best possible outcome for your child and to lessen the effect of this illness on their life.

Your child’s care plan depends on their illness. We watch your child’s blood cell counts closely and recommend the right treatments at the right time. At Seattle Children’s we offer these treatment options:

  • Often the first course of treatment is medicine (steroids) that can help make more red blood cells. Steroid treatment helps 80% of children. Doctors will give your child the lowest dose possible. This helps avoid side effects. Side effects may include:

    • Less ability to fight infection
    • Changes in appetite
    • Upset stomach
    • Sleep problems
    • High blood sugar
    • High blood pressure
    • Low bone density
    • Clouding of the lens of the eye (cataract)

  • Adding blood into your child’s body (blood transfusion) is another way to increase their red blood cells.

    Transfusions are used when anemia is severe and steroid therapy is not effective. How often children need a transfusion varies.

    Our outpatient infusion clinic is staffed by expert nurses and has weekend hours. This helps your child get care without having to spend a night in the hospital.

    Having many blood transfusions can cause iron to build up in the body and damage vital organs. This is called iron overload. It is treated with iron chelation therapy.

    Your child’s doctor will check their iron levels regularly with blood tests and specialized MRI (magnetic resonance imaging) scans.

  • For some children, Diamond-Blackfan anemia can be cured by having a transplant of blood-forming stem cells from a healthy donor. This treatment helps your child’s bone marrow make normal blood cells. It is also called a bone marrow transplant or hematopoietic cell transplant. Hematopoietic (him-at-oh-poy-EH-tik) stem cells are immature cells that grow into blood cells.

    Our Non-Malignant Transplant Program specializes in stem cell transplants for children with marrow failure and other noncancer conditions.

    Often, children with bone marrow failure need special treatment to prepare their body for the transplant and help them recover without serious side effects. This is called reduced-intensity conditioning. Our team created many of the conditioning treatments used now for children with marrow failure.

    We perform the transplants here at Seattle Children’s, working closely with our partner Fred Hutch.

  • Our team will check your child for other problems that sometimes affect children with Diamond-Blackfan anemia. We make sure your child gets the care they need. Health problems may include:

    • A gap in the roof of their mouth (cleft palate)
    • Differences in their bones
    • Problems with their kidneys, heart, hormones or ability to fight infection
    • Increased risk of myelodysplastic syndrome (MDS), leukemia and solid tumors

Contact Us

Contact the Cancer and Blood Disorders Center at 206-987-2106 for an appointment, a second opinion or more information.

To make an appointment, you can call us directly or get a referral from your child’s primary care provider. We encourage you to coordinate with your pediatrician or family doctor when coming to Seattle Children's.

Providers, see how to refer a patient.