Diamond Blackfan anemia (DBA) occurs when the bone marrow in one’s body either does not produce red blood cells or doesn’t create enough of them.
Sometimes called Blackfan Diamond anemia, DBA is a very rare disorder. It only affects between 600-700 people around the world. It is so rare that even some physicians may not immediately recognize it.
No one really knows what causes the disease. However, an error in the gene named RPS19 on the 19th chromosome has been linked to around 25% of DBA cases. In addition, approximately 10-20% of those with the disorder have a history of it in their family.
Diagnosis is often a challenge, but since people are born with it, it’s typically diagnosed during the first couple of years of life. Physical defects like heart and hand deformities are a few of the symptoms but there still is not an established list of all the side effects. Some symptoms are, of course, anemia-related, including, abnormal heartbeat, paleness, fatigue, fainting, and irritability. Additionally, symptoms can vary from mild to life-threatening.
A complete blood cell count (CBC) test can aid in diagnosing an infant with DBA. The results will show a low hemoglobin and low hemoglobin. Furthermore, an additional blood test will show that there is a high adenosine deaminase activity. A biopsy will also determine if there enough red blood cells being made.
As far as treatment, 70% of those with DBA respond positively to the steroids. Others with the anemia may need blood transfusions on a regular basis. Currently, the only cure is a bone marrow transplant. This option is mostly only for those who have tried both steroids and blood transfusions.
