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 over time and from child to child.

What causes Diamond-Blackfan anemia?

At least half of people with DBA have changes (mutations) in genes that affect how the body makes proteins. Other people are diagnosed based on their signs and symptoms of DBA.

Diamond-Blackfan Anemia at Seattle Children’s

Children with DBA can have healthy, active lives. But they need care from a blood specialist (hematologist) with lots of experience treating 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. They have lots of experience treating children and teens with DBA.

The Bone Marrow Failure Program is part of our Cancer and Blood Disorders Center. If you would like an appointment, ask your primary care provider to refer you. If you have a referral or would like a second opinion, contact the center at 206-987-2106.

Providers, see how to refer a patient.

  • The experts you need for comprehensive care

    Our doctors are nationally known for treating children who have blood disorders and marrow failure. The doctors who will 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.

    Diamond-Blackfan anemia sometimes causes problems with the bones, heart, kidneys, hormones or the body’s ability to fight infection (immune system). It raises the risk of some cancers. Your child will get care as needed from experts who diagnose and treat problems related to:

    Our multidisciplinary team works with each other – and with you – so your child gets all the care they need, in a coordinated way.

    We care for your whole child – not just their disease. As needed, your child will get care from specialists in nutrition, pain management, social work, physical therapy, psychiatry and emotional health. Read more about the supportive care we offer.

  • Support for your whole family

    Having a child with Diamond-Blackfan anemia can be stressful for the whole family. We help take positive steps right away by offering appointments within 1 to 3 days to new patients with urgent needs. If needs are not urgent, new patients can be seen within 1 or 2 weeks.

    During visits, we take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.

    Our child life specialists and social workers help your child and your family through the challenges of this condition. We connect you to community resources and support groups.

    At Seattle Children's, we work with many children and families from around the Northwest and beyond. Whether you live nearby or far away, we can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care. Read about our services for patients and families.

  • Among the nation’s top children’s hospitals

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

    Our physician-scientists help set national standards for the care of young people with blood disorders. We provide the most advanced treatments in our region.

    Children do not react to illness, pain and medicine in the same way as adults. They need – and deserve – care designed just for them.

    Our experts focus on how treatments today affect growing bodies in the future. We plan your child’s treatment based on years of experience and the newest research on what works best – and most safely – for children.

  • Advanced therapies, including clinical trials

    We offer a full range of services for children with DBA. Your child may need corticosteroid medicines or transfusions of red blood cells or blood-forming stem cells. For some children, a transplant of stem cells from a healthy donor cures DBA.

    Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer conditions. Our transplant team is very experienced in preparing children with marrow failure for stem cell transplant and helping them recover.

    For details on the number of stem cell transplants we do each year and survival rates for children who receive them, see our statistics and outcomes.

    We do the transplants here at Seattle Children’s, working closely with our partner Fred Hutchinson Cancer Center. Fred Hutch pioneered this lifesaving procedure and is one of the world’s largest stem cell transplant centers.

    Through our partnership with Fred Hutchinson Cancer Center, 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 ways to prepare patients for the transplant or options for children who do not have good donor choices.

    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:

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

Symptoms of Diamond-Blackfan Anemia

Many children with DBA 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:

  • Short height
  • Abnormal thumbs
  • A gap in the roof of their mouth (cleft palate)
  • Low bone density (osteopenia)
  • Kidney problems
  • Heart problems

Diagnosing Diamond-Blackfan Anemia

Most often, DBA is diagnosed before a baby is 1 year old. Sometimes it is found later in life.

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 DBA.
  • 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 testing to confirm the diagnosis of DBA 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 by doing a bone marrow aspiration or biopsy.
  • Take X-rays or do ultrasounds to look for bone, heart 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:

  • Corticosteroids

    Often the first course of treatment is medicine (corticosteroids) that can help make more red blood cells. Steroid treatment helps 80% of children.

  • Red blood cell transfusion

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

    We give transfusions if 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 is open every day. 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.

  • Stem cell transplant

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

  • Treatment for related health problems

    Our team will check your child for other problems that sometimes affect children with DBA. 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 

If you would like an appointment, ask your child’s primary care provider to refer you.

If you have a referral or would like a second opinion, contact the Cancer and Blood Disorders Center at 206-987-2106 or by email.

Providers, see how to refer a patient.

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