A Family Guide to Non-Oncologic Blood Disorders
Diamond-Blackfan Anemia
What is Diamond-Blackfan anemia? Diamond-Blackfan anemia (DBA) is a rare bone marrow failure syndrome, affecting the production of red blood cells. It may be inherited or be sporadic and those affected have a higher risk of cancer. The following are the most common symptoms of DBA. However, each child may experience symptoms differently. Symptoms may include: • Pale skin • Restlessness • Sleepiness • Rapid heart rate • Shortness of breath • Heart murmurs • Heart and kidney defects • Below-average height Your child may not have any other physical signs of DBA but approximately 40% of the patients, have birth defects involv- ing the face, head, hands, and especially the thumbs. How is DBA diagnosed? A bone marrow aspirate evaluates your child’s ability to make red blood cells, and a screening for specific genes will confirm the diagnosis. If these come back without an identified gene, it does not mean that your child does not have DBA. Some other blood markers also can be elevated in DBA, including: • MCV (mean corpuscular
lifelong process or done on a schedule determined by your child’s provider. Another option is a type of medication known as corticoste- roids (prednisone), which is given by mouth. It is given initially at high doses and then is tapered down to the lowest dose that keeps your child’s hemoglobin at a level above 9 gm/dl. Bone marrow (stem cell transplant) also may be considered. Your provider also may consider steroid therapy. An approxi- mate response time to therapy is 2–4 weeks once the steroids have been started. As your child gets older, he or she may no longer respond as well to therapy or go into remission where no further treatment is needed. Your medical team will determine the best treatment plan for your child. How successful is the treatment? Each of these options has complications. After approximately 2 years of blood transfusions, your child may develop iron overload and require medication daily to remove the excess iron from their body. This excess iron can be dangerous as it will build up in the liver, heart, and other organs. Long-term use of steroids can lead to osteoporosis (weak and brittle bones), pathologic fractures, diabetes, cataracts (cloud- ing of the lens of the eye), or high blood pressure. Stem Cell Transplant Indications Since DBA is a bone marrow failure syndrome, there may be a time when other blood cell lines are affected and your child cannot make white blood cells or platelets. If your child cannot tolerate steroids and has a hard time finding a suitable donor for transfusion, transplant may be considered. There also is a possibility of becoming iron overloaded due to a genetic predisposition. If this is the case, transplant may also be con- sidered. Transplant is not a first-line option due to risk of rejection, infection, and death. Donor availability (a sibling match is best option) also must be taken into consideration along with risks and benefits. Any related donor also must be evaluated for DBA; it is possi- ble to have DBA without anemia, and it may require treatment at any point in their lifetime.
deaminase (eADA) • Fetal hemoglobin (Hgb F %) • Congenital anomalies • Family history of DBA
volume) size of the red cell, which can be seen on a complete blood cell (CBC) • Erythrocyte adenosine
What tests and procedures will my child need? • Bone marrow aspirate, performed by using a needle to re- move a small amount of bone marrow from the hip bone • Blood tests, which should be performed before the first transfusion. Once a transfusion is given, the blood tested may contain that of the donor and results may be inaccurate. What are the treatment options for DBA? Red blood cell transfusion is a standard method of treatment, usually given every 3–4 weeks. Transfusion therapy can be a
Diamond Blackfan Anemia
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