Diamond-Blackfan anemia (DBA) is a bone marrow failure disorder that is inherited, but very rare.
It was named after Dr. Louis K. Diamond and Dr. Kenneth D. Blackfan, who were the first to document cases of this disease back in the 1930s. Straightforward anemia can be treated with iron, vitamins and other blood stimulating treatments, but Diamond-Blackfan does not respond to these treatments. It is now recognized as a ribosomal protein disease. Patients are treated with corticosteroids and blood transfusions. As a last resort, the only other treatment is a stem cell (bone marrow) transplant, which is not without risks of its own.
As anyone who has endured extended rounds of treatment with steroids knows, the long term effects are problematic and include weight gain, hypertension, muscle weakness, osteoporosis, slow healing of wounds, eye diseases such as cataracts and glaucoma, and diabetes. Patients on steroids must be carefully monitored.
Diagnosis usually occurs within the first year of life. The baby will appear pale, and may have a rapid heartbeat. Deformities of the face, head (microencephaly), and hands–particularly the thumbs–are also noted in DBA cases. People with very mild cases may be fortunate to have no symptoms, at all.
While there is no cure for DBA, research continues to establish better treatments. For a full list of clinical trials, click here. Or, if you are living with DBA, or caring for someone who has this disease, the Diamond-Blackfan Anemia Foundation has a wealth of resources and would welcome your inquiries.
