What is Diamond-Blackfan anemia?

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome that affects the ability of the bone marrow to produce red blood cells. 
Most patients are diagnosed in the first two years of life. However, some mildly affected patients may show symptoms in their adult life. Older patients appear to have an increased likelihood of developing some types of cancer.

What are the signs and symptoms of Diamond-Blackfan anemia?

The symptoms of DBA include:

• Fatigue
• Sleepiness
• Pallor
• Headache
• Low hemoglobin and reticulocyte (immature red blood cells) count

Children with DBA may also have:

• Distinct facial appearance
• Unusual thumbs
• Cleft palate
• Short stature
• Heart anomalies
• Anomalies of the reproductive and/or urinary systems

How is Diamond-Blackfan anemia diagnosed?

Typically, a diagnosis of DBA is made through a blood count, a red cell enzyme test (eADA), and genetic testing. A diagnosis can also be made on clinical presentation of symptoms. Once all information is gathered, your child’s doctor may perform a bone marrow aspirate and biopsy for confirmation and to determine any additional abnormalities.

How is Diamond-Blackfan anemia treated?

At Children’s Hospital of Philadelphia (CHOP), patients with DBA are cared for by a multidisciplinary team of experts from the Division of Hematology; Division of Gastroenterology, Hepatology, and Nutrition; Division of Endocrinology; Division of Pulmonary and Sleep Medicine; and the Neuropsychology and Assessment Service.

Many patients with DBA require red blood cell transfusions to minimize the effects of anemia on growth and wellbeing. Corticosteroids can also be used to treat anemia in DBA. Some patients respond to steroid therapy while others show no response and remain transfusion dependent.

Bone marrow transplantation can cure the hematological aspects of DBA. This option may be considered when patients require frequent transfusions and develop signs of iron overload with organ damage.