Diamond Blackfan Anemia (DBA) Treatment

Diamond-Blackfan anemia (DBA) is a rare genetic blood disorder that occurs when the bone marrow does not make enough red blood cells. When the number of red blood cells are low, fewer red blood cells are available to deliver oxygen to the body.

DBA affects 5–7 newborn babies per 1 million worldwide and occurs equally in both boys and girls. It usually develops in the first year of life but can appear at any age.

Diamond-Blackfan anemia symptoms

Diamond-Blackfan anemia symptoms can be mild to severe. Sometimes there are no symptoms.
Having low red blood cells (anemia) is usually the first symptom of DBA. Other symptoms can include:

• Pale skin
• Sleepiness
• Fast heartbeat
• Headaches

Children with DBA may also have one or more physical characteristics:

• Distinct 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) and cleft lip (split in the upper lip).
• Low birth weight or delayed growth. Children with DBA may be small for their age, be shorter in stature, or have delayed puberty.
• Thumbs that are missing or have 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) 

Diamond-Blackfan anemia causes

Diamond-Blackfan anemia is a genetic disorder caused by a mutation (change) in 1 of more than 30 genes. These genes are responsible for the normal function of ribosomes in the body’s cells. Ribosomes help to form proteins which are essential building blocks of the body.

The most common genes affected in DBA patients are RPS19, RPL5, RPL11, RPL35a, RPS10, RPS26 and RPS24. About 20-30% of DBA cases do not have a known genetic cause.

In many families, the gene mutation (change) that causes DBA is passed from parent to child. If one parent has the gene mutation, there is a 50% chance it will pass on to children. In at least 1 in 3 of DBA cases, the gene change is not found in either parent. It is new to the family.

Within the same family, DBA can have different symptoms. For example, one child with the gene change might have mild symptoms and not need any therapy. Another child might need blood transfusions throughout life.

Diamond-Blackfan anemia diagnosis

Tests to diagnose DBA include:

• Complete blood count (CBC) with reticulocytes: Children with DBA will usually have low hemoglobin, reduced red blood cells (RBC), and reduced reticulocytes (immature blood cells). The numbers of white blood cells and platelets are usually normal.
• Bone marrow aspiration and biopsy: In patients with DBA the red blood cell progenitor cells are missing or severely reduced in the bone marrow. Red blood cell progenitor cells are young cells that become red blood cells.
• Genetic testing: Genetic testing is typically completed by taking a blood sample. Finding a gene change in one of the DBA genes confirms the diagnosis of DBA. In cases with no known gene change, the diagnosis is based on signs and symptoms.
• 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). The eADA and HbF numbers are often higher in patients with DBA.

Diamond-Blackfan anemia treatment

The most common treatments for DBA are corticosteroid therapy, blood transfusions and allogeneic bone marrow transplants.

Corticosteroid therapy
Prescription steroid medicines can help bone marrow create red blood cells. Children younger than 1 year of age are not given steroids due to side effects. Some side effects can affect their growth.

Most children who take corticosteroids will show a response. This means they will have more hemoglobin and reticulocytes. Due to corticosteroid side effects, the dose must be decreased over several weeks. However, low-dose steroids must be continued long-term in order to maintain a response.
Side effects of corticosteroid treatment may include:

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

Blood transfusion (red blood cell transfusion)
In a blood transfusion, children get healthy red blood cells donated from another person. Transfusions can increase the number of red blood cells and hemoglobin.

Blood is given into a vein through an IV or a port, which is a tiny device placed under the skin. Transfusions are usually repeated every 3-4 weeks. Over time they can lead to an excess of iron in the body. Iron deposits in organs such as the liver, heart, and pancreas can cause damage if not removed properly. To prevent iron overload, patients often take daily medicines that help remove excess iron from the body.

Stem cell (bone marrow) transplant
A stem cell transplant replaces the unhealthy bone marrow with healthy cells from a donor. For this treatment, a suitable donor (related or unrelated) must first be identified. A stem cell transplant can cure the main effects of DBA, including anemia, for life. But in some patients, it can cause side effects. These include:

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

The long-term survival after transplant in children with DBA is higher than 90%.

Diamond-Blackfan anemia clinical trials

St. Jude offers clinical trials and research studies for children, teens, and young adults with DBA. Learn more about clinical research at St. Jude.

Diamond-Blackfan anemia prognosis

Children with DBA can live long lives with proper treatment.
Some people treated for DBA will achieve remission, meaning their symptoms go away for 6 months or longer. In some cases, remission can be permanent. If the disease comes back (relapse), additional transfusions may be needed. A small number of DBA patients might have cancers later in life. These include:

• Colorectal cancer
• 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

Living with Diamond-Blackfan anemia 

Children with DBA may have frequent visits to the doctor and may need hospital stays for disease complications. This may result in missed days of school and missed days of work for their caregivers. But in general, children with DBA can lead normal lives.

Diamond-Blackfan anemia care at St. Jude 

• St. Jude offers children with blood disorders exceptional care. We provide support to help with physical, emotional, psychological, educational, and other challenges while managing your child’s blood disorder.
• Our medical team works closely with lab researchers to learn more about what causes DBA. Their work brings new treatments from the lab to the clinic.
• St. Jude doctors and scientists are engaged in the latest research studies. St. Jude patients who qualify may take part in these studies. By performing these studies, we hope to better understand and treat blood disorders.