Diamond-Blackfan Anemia (DBA)

What is Diamond-Blackfan anemia?

Diamond-Blackfan anemia (DBA) is a rare blood disorder that occurs when the bone marrow does not make enough red blood cells. 

DBA can be inherited, or passed down from parents to children. But it sometimes appears without a family history.  

DBA is a type of bone marrow failure. The bone marrow is the soft, spongy tissue at the center of your bones. Stem cells in the bone marrow make new blood cells. These include: 

• Red blood cells that carry oxygen to the body
• White blood cells that help fight infections
• Platelets that help the blood to clot and stop bleeding

In DBA, the bone marrow does not make enough red blood cells. This results in low red blood cell count (anemia). Most patients with DBA have normal platelets and white blood cell counts. 

When the number of red blood cells is low, fewer red blood cells can carry oxygen to the body. People with DBA may also develop myelodysplastic syndrome (MDS). In MDS, blood cells are damaged and do not develop or work normally. 

DBA can also increase your child’s risk of getting leukemia (cancer of blood and bone marrow), osteosarcoma (cancer of the bone), colon cancer, and other cancers.

DBA usually appears in the first year of a child’s life, but in rare cases it can be diagnosed later in life. Treatments include blood transfusions, medicines, and stem cell (bone marrow) transplant. 

Symptoms of DBA

Signs and symptoms of DBA are caused by low numbers of red blood cells. DBA symptoms can be mild to severe. Sometimes there are no symptoms at first.

Low red blood cells (anemia) is usually the first symptom of DBA. Signs and symptoms of anemia can include:

• Fatigue or feeling tired
• Pale skin, gums, or nail beds
• Headache
• Dizziness or feeling lightheaded
• Cold hands or feet
• Fast or irregular heart rate
• Shortness of breath  

Children with DBA may have certain physical differences, such as:

• Unusual features of the face, head, and neck. These may include small head size, wide-set eyes, droopy eyelids, broad nose, small or low-set ears, small lower jaw, or short neck. They may have a cleft palate (opening in the roof of the mouth) or cleft lip (split in the upper lip).
• Low birth weight
• Smaller-than-average body size
• Short height
• Delayed growth
• Missing thumbs or thumbs with a different shape
• Heart or kidney problems or defects
• Eye problems such as cataracts (clouding of the lens of the eyes) or glaucoma (increased pressure in the eyes) 

Causes of DBA

DBA is often caused by a gene change (mutation) in 1 of more than 30 genes. These genes are responsible for the normal function of the body’s cells. Most cases of DBA are because of mistakes in the genes RPS19, RPL5, RPL11, RPL35a, RPS10, RPS26 and RPS24. 

DBA can be caused by an inherited gene mutation. If one parent has the gene mutation, there is a 50% chance it will pass on to their children. 

But for 1 in 3 of DBA cases, the mutation is not found in either parent. It is new to the family. 

Even within the same family, DBA can have different symptoms that need different treatment. For example, 1 child might have mild symptoms and not need any treatment. Another child might need blood transfusions throughout their life. 

Diagnosis of DBA

Your child’s health care provider will do a physical exam and ask about your family’s health history. They will do several types of tests, including:  

• Complete blood count: This test measures the number of red blood cells, white blood cells, and platelets. A low red blood cell count can be a sign of DBA.
• Genetic tests: Genetic tests will be done to look for specific gene mutations linked to DBA.
• Bone marrow aspiration and biopsy: This test looks at the number and size of cells found in a bone marrow sample to see if the bone marrow is working properly.
• Other testing: Other blood tests may help in the diagnosis of DBA. These include an erythrocyte adenosine deaminase activity level (eADA) and fetal hemoglobin level (HbF). Levels of eADA and HbF are often higher in patients with DBA.

Your child may also have imaging tests such as magnetic resonance imaging (MRI), ultrasound, and echocardiogram to look for other health problems that may happen with DBA.  

Genetic counseling and testing are recommended to help you understand your child’s diagnosis and how DBA runs in families. 

Treatment of DBA

Your child’s treatment depends on the severity of their symptoms and their medical needs. Make sure your child gets regular medical care and testing, including blood counts, bone marrow tests, and screening for cancer and other problems.

DBA care can include short- and long-term treatments to manage health problems and improve quality of life.

Treatments for DBA include:

Corticosteroid therapy

Prescription steroid medicines help the bone marrow make more red blood cells. Children younger than 1 year of age are not treated with steroids because of side effects like slow growth.

Most children who take steroids will respond to the treatment. Because of possible side effects, the dose must be decreased over several weeks. However, some children may need to take low-dose steroids as a long-term treatment. 

Side effects of steroid therapy may include:

• Delayed growth (height)
• Osteoporosis (weak bones)
• Weight gain
• High blood pressure
• Diabetes
• Weaker immune system (at higher doses)

Blood transfusions

Your child may get transfusions of red blood cells from a healthy donor. This helps treat their symptoms but is not a cure.

Over time, transfusions can cause too much iron to build up in the body (iron overload). The extra iron can cause damage to organs such as the liver, heart, and pancreas. To prevent iron overload, your child may take medicine to remove the extra iron.

Stem cell (bone marrow) transplant

A bone marrow transplant is the only long-term treatment for bone marrow failure caused by DBA. Healthy bone marrow from a donor (allogeneic transplant) replaces damaged bone marrow. 

For a successful bone marrow transplant, an HLA-matched donor is needed. HLA (human leukocyte antigens) are proteins on cell surfaces. Doctors need to carefully match these markers between the donor and patient to prevent dangerous immune system reactions and transplant rejection. Your child and the donor may need HLA typing to see if there is a good match. 

A transplant is not an easy process. Side effects of a bone marrow transplant could include:

• An immune system reaction against the body (graft versus host disease)
• Severe infections
• Rejection of the donor cells

Even after a transplant, your child can be at risk for other health problems related to DBA.

Surgery

Some children may need surgery to treat complications of DBA such as physical abnormalities, tumors, heart defects, kidney problems, or other organ problems.

Gene therapy

Scientists are studying new gene therapy treatments that work by repairing faulty genes in a patient’s stem cells. These therapies may be offered through a clinical trial in the future.

Prognosis for DBA

With proper care, children with DBA can live long, healthy lives. 

Some people treated for DBA will develop treatment independence, meaning their symptoms go away for 6 months or longer. In some cases, this can be permanent, and patients may not need ongoing therapies.  

A small number of DBA patients might develop cancer later in life. This may include:

• Colorectal cancer in the colon or rectum
• Osteosarcoma, a cancer of the bone
• Myelodysplastic syndromes (MDS), a disorder in which the stem cells in the bone marrow do not work well. MDS can become leukemia.
• Acute myeloid leukemia (AML), a cancer of the bone marrow

Ask your health care provider about your child’s specific case.

Living with DBA

If your child has DBA, there are things you can do to help manage the disease and prevent problems. Work closely with your health care provider to develop a care plan that is right for your child.

Here are some ways to help manage DBA:

• Keep all medical appointments: Your child needs regular lab tests and monitoring including blood and bone marrow tests. Get medical care if your child’s condition changes.
• Take steps to prevent infection: Wash hands often, keep patient areas clean, and stay away from people who are sick. Get recommended vaccines and take medicines as instructed by your care team.
• Get cancer screenings: DBA increases your child’s risk of cancer. Finding cancer early helps treat and manage it. Your child may need screening for tumors that can develop in the blood, bone, colon, or other parts of the body. 
• Tell others about your child’s condition: Make sure others know about your child’s DBA and any other medical problems. Tell all health care providers about your child’s diagnosis and any medicines they take, especially before any medical or dental procedures. Because your child has a higher risk of cancer and other health problems, the care team may take special safety steps when giving some medicines or diagnostic tests, such as x-rays and treatments with radiation.
• Talk to your doctor before giving your child any medicines or supplements: Some medicines can interact with other medicines your child is taking.
• Know what activities to avoid: If your child has fewer red blood cells, they may get tired more easily or get out of breath. Your child should not overdo physical activity.
• Encourage healthy habits: Help your child live a healthy lifestyle through physical activity, healthy eating, and good sleep habits. Be sure your child wears sunscreen, drinks enough fluids, and does not smoke or vape. 

Questions to ask your care team 

• What signs and symptoms of DBA should I watch for?
• What follow-up care and monitoring will my child need?
• How does DBA impact my child’s growth and development? 
• What are possible health problems or complications of DBA?
• Are there new treatments or clinical trials for DBA we should consider?
• What are the risks and benefits of each type of treatment?
• Are there support groups or resources for families dealing with DBA?
• How will DBA affect my child’s daily life, such as going to school and other activities?
• Should my child and family members get genetic testing?

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