Diamond Blackfan Anemia

Overview

Type of disease: Rare conditions

Diamond Blackfan anemia (DBA) is a rare genetic blood disorder. Blood cells are made in the bone marrow, found in the center of our bones. In DBA, the bone marrow does not make enough red blood cells. Red blood cells are the cells which carry oxygen to all the different parts of our body. DBA is usually diagnosed in the first year of life.

Symptoms of DBA may include pale skin, tiring easily, rapid heartbeat and heart murmurs. In most cases there is no obvious physical sign of DBA. About 30-47% of babies with DBA are born with other birth defects which may involve the head, face and hands (especially the thumbs). Other complications may include heart, kidney, urinary tract, and genital organ defects. Many children with DBA are shorter than average and start puberty later.

DBA affects boys and girls equally and occurs in every racial and ethnic group. A mutation or change in a gene is the cause of DBA. So far, changes in 9 different genes are known to cause DBA, but the genes involved in almost 50% of DBA cases are still unknown. DBA is an autosomal dominant disorder which means one copy of the changed gene (genes come in pairs) can cause the disorder. This can be passed down from either affected parent. DBA varies greatly, so a parent who has very mild symptoms may had a child with very severe symptoms. About 55% of the time, DBA is caused by a new mutation which occurred while the sperm or egg was being made.

Diagnosis is usually confirmed by testing a small sample of the bone marrow fluid. Genetic testing can also be done. Treatment includes medication and blood transfusions to treat the anemia. Stem cell transplantation might be an option. Other birth defects are treated as needed. Research is ongoing, so talk to your child’s doctor about the most current treatment options. Genetic counselors and support groups are good sources of information and can help connect you with other families affected by DBA.

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