Diamond Blackfan anemia

The first step in treating your child is forming an accurate and complete diagnosis. Your child’s physician may order a number of different tests to make a diagnosis of Diamond Blackfan anemia. In addition to a complete medical history and physical examination, Diamond Blackfan anemia can be diagnosed accurately by a full evaluation of your child’s blood and bone marrow.

To diagnose DBA, your child’s physician may order some or all of the following tests:

• blood tests- A complete blood count (CBC) with reticulocytes can help your child’s doctor to understand the cause of the anemia. In DBA, this test shows an abnormally low number of red blood cells, but normal numbers of white cells and platelets. A low reticulocyte counts indicates that new red cells are not being made by the bone marrow and released into the blood.
• bone marrow exam– Using a needle, samples of the fluid (aspiration) and solid (biopsy) portions of bone marrow are withdrawn under local anesthesia. This allows your child’s doctor to look for marrow abnormalities. In DBA, your doctor will look for a lack of immature red blood cells in the bone marrow.
• other tests– Additional blood tests and genetic testing may be ordered to rule out other inherited types of anemia and other disorders, such as myelodysplastic syndrome.

Most children experience symptoms very early in life and as a result Diamond Blackfan anemia is usually diagnosed before a child’s first birthday.

After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.