DBA is usually diagnosed during the first year of life. Several tests can be used to tell if a person has DBA. One test a doctor can perform is called a bone marrow aspirate. This is a test in which a needle is inserted into a bone and a small amount of bone marrow fluid is taken out and studied under a microscope. Blood tests can also be done to see if there is a genetic basis for DBA or certain chemical abnormalities linked to DBA. Some people have a family history of the disorder. More than half of people with DBA have a known genetic cause. In many people with DBA, doctors do not know the cause. If someone has DBA there is up to a 50% chance that each of his or her children will have DBA. DBA affects both boys and girls equally. It occurs in every racial and ethnic group. There are about 25 to 35 new cases of DBA each year in the United States and Canada.
People with DBA have symptoms common to all other types of anemia, including pale skin, sleepiness, rapid heartbeat, and heart murmurs. In some cases, there are no obvious physical signs of DBA. However, about 30 to 47% of those with DBA have birth defects or abnormal features involving the face, head, and hands (especially the thumbs). They might also have heart, kidney, urinary tract, and genital organ defects. Many children are short for their age and might start puberty later than normal.
To treat very low red blood cell counts in people with DBA the two most common options are corticosteroid medication and blood transfusions. Bone marrow/stem cell transplantation might also be considered. Some people need no specific therapy. A qualified doctor can recommend the best treatment options.