What is Diamond Blackfan anemia?
Diamond Blackfan anemia (DBA) is a pediatric blood disorder that occurs when the bone marrow fails to make red blood cells, which are essential for carrying oxygen from the lungs to all the other parts of the body.
How serious is it?
DBA is a potentially life-threatening condition that can cause severe anemia and other abnormalities. DBA requires ongoing medical care by experienced pediatric hematologists[MSP2] to help manage symptoms and keep your child as healthy as possible.
Is Diamond Blackfan anemia common?
Diamond Blackfan anemia is very rare, affecting only five to seven children per million. It can occur equally in boys and girls, and has been diagnosed in nearly all ethnic groups.
What causes Diamond Blackfan anemia?
Diamond Blackfan anemia (DBA) is a genetic disease that affects the body’s ribosomes, which are small cellular structures that play an important role in building proteins in the body. DBA has been linked to defects of at least ten ribosomal protein genes. Mutations in one of these genes accounts for 50 to 70 percent of DBA cases. In rare cases, DBA in boys is due to mutation in GATA1, which belongs to a different class of genes that regulate the earliest steps in red cell production. Unidentified genes still account for the remaining cases.
DBA is usually a dominantly inherited disorder, meaning that one copy of a defective gene is enough to cause the disease; the GATA1 mutation, for instance, is X-linked. In some cases, children inherit the defective gene from a parent. However, new, non-inherited gene mutations can also cause the disease in children with no family history of the disorder.
What are the symptoms of Diamond Blackfan anemia?
The symptoms of Diamond Blackfan anemia can vary widely from child to child depending on the specific genetic mutation and other factors. Symptoms generally start by the time a baby is a few months old and almost always before the age of 1 year.
The most common symptoms of Diamond Blackfan anemia (DBA) are:
- pale skin
- decreased energy or tiredness
- difficulty breathing
- tiring during feeding in infants
About 40 percent of children with DBA also have one or more of the following physical characteristics:
- short stature
- head, face and neck abnormalities
- thumb defects
- kidney or heart defects
The symptoms of DBA may resemble other blood disorders or medical problems; some are very common and easy to treat, while others can be more serious. The symptoms listed above are common presentations of the disease, but do not include all possible symptoms. It is important to be evaluated by a physician to obtain an accurate diagnosis. Always consult your child's physician if you have concerns.