Diamond-Blackfan anemia (DBA) occurs when your bone marrow cannot make red blood cells as it should. Red blood cells are essential for carrying oxygen from your lungs to the rest of your body.
At Seattle Cancer Care Alliance (SCCA), our team of experts provides comprehensive diagnostic and medical care for adults with DBA. We also work closely with our colleagues at Seattle Children’s Hospital to care for children with DBA and to transition them from pediatric care to adult care when they are ready.
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What is Diamond-Blackfan anemia?
DBA is a genetic blood disorder that causes anemia and other abnormalities. It belongs to a group of disorders called inherited bone marrow failure syndromes. In these disorders, the bone marrow cannot make enough healthy blood cells. People with DBA are at increased risk for certain cancers. They also can be born with malformations of the heart, genitourinary system and other parts of the body.
DBA results from a problem with ribosomes, structures in your cells that play an important role in building proteins in your body. Mutations in ribosomal protein genes account for many DBA cases. Most often, people with the disorder inherit the abnormal gene from a parent. In other cases, a gene mutation happens in a person with no family history of DBA.
Symptoms and diagnosis of Diamond-Blackfan anemia
Most people with DBA are diagnosed before age 1. However, DBA is increasingly being diagnosed in older children and adults.
People with DBA typically have symptoms of anemia, such as fatigue or decreased energy, shortness of breath and pale skin. Some are short in stature, and they may be born with traits such as thumb abnormalities, characteristic facial appearance and congenital heart disease. In some people with DBA, a physical exam and lab tests reveal no signs or only subtle signs of the disease.
SCCA offers a full array of services to diagnose DBA. Your doctor may order some or all of the following:
- Blood tests — A complete blood count (CBC) and reticulocyte (immature red blood cell) count can help find the cause of the anemia. In DBA, these tests show an abnormally low number of red blood cells. Occasionally, white blood cell and platelet numbers are also low. A low reticulocyte count indicates that your bone marrow is not making new red blood cells and releasing them into your bloodstream as it should in response to anemia.
- Bone marrow aspiration and biopsy — Using a hollow needle, tiny samples of bone marrow are taken under local anesthesia. This allows your doctor to study your blood cell development. In DBA, doctors look for a low level of red blood cell precursors in your bone marrow. Precursor cells are stem cells that will divide to form one specific type of blood cell, such as a red blood cell.
- Other tests — You might have genetic testing to find mutations in DBA genes and to rule out mutations in genes linked with other inherited types of anemia. Your doctor may recommend other blood tests as well.
Diamond-Blackfan anemia treatment
SCCA’s team of doctors provides a comprehensive range of treatment options for DBA.
An initial course of corticosteroid therapy increases red blood cell production in many people with DBA. The dose is gradually lowered to maintain enough red blood cells while limiting side effects, like high blood pressure, diabetes, slowed growth, low bone density and increased risk of infections.
Red blood cell transfusions
If you do not respond to corticosteroid therapy or you have significant side effects from steroids, the main therapy is red blood cell transfusions. If you receive repeated transfusions, you can develop iron overload and may need medicine to remove the excess iron from your body (chelation therapy), as well as testing to check for organ damage from excess iron.
Bone marrow transplant
For some people with DBA, doctors consider blood or bone marrow transplantation (also called stem cell or hematopoietic cell transplantation), a procedure that replaces your hematopoietic (blood-forming) stem cells with the cells of a healthy donor. A transplant cures the blood-related abnormalities of DBA.
The Fred Hutch Bone Marrow Transplant Program at SCCA has performed more bone marrow transplants than any other institution in the world.
Because DBA and its treatments can impact many organ systems and affect your lifestyle, care at SCCA involves a multidisciplinary team. Based on your health needs, your team may include hematologists, internists, psychiatrists, psychologists, surgeons, cardiologists, endocrinologists, nurses, social workers and physical and occupational therapists.