One of the many types of anemia is Diamond Blackfan Anemia (DBA), which is a rare blood disorder that is characterized by a failure of bone marrow to produce red blood cells. The disorder was recognized in 1938, and it goes by a few other names: congenital pure red cell aplasia, congenital hypoplastic anemia, and Aase syndrome. DBA was named after Dr. Louis Diamond and Dr. Kenneth Blackfan, who discovered and documented the first cases of this disorder in the 1930s.
Currently, there are over 550 patients that suffer from DBA. It affects males and females alike and is usually diagnosed within the first year of a person’s life; because of this, many of the documented cases are children. According to the DBA Registry, the average age of those presenting with anemia is 2 months, and the average age of diagnosis of DBA is 4 months. Luckily, it is rare that this disorder goes unnoticed for long.
Similar to other types of anemia, DBA is characterized by pale skin, sleepiness, and a rapid heartbeat. Sometimes, people don’t have physical signs, but between 30-47% of people who do have it are born with birth defects, such as abnormalities to the hands, face, or head. There a couple tests that a doctor can perform to tell if a person has it. One test involves studying the bone marrow under a microscope to see if the characteristics appear; other tests include blood tests to see if there is a genetic or chemical basis for DBA. Half of the patients with DBA have a known genetic cause, while others don’t know what caused it. If a parent has it, there is a 50% chance their child could have it.
Fortunately, there are several ways to treat Diamond Blackfan Anemia. The most common options for treating DBA are corticosteroid medications and blood transfusions. The treatments have scary names, but they aren’t; plus, they are life-saving! The third way to treat DBA is through a bone marrow transplant (See our last blog on FAQ’s on bone marrow donation). There are other treatment options being studied, but these three are the most common and the safest for patients. Though having DBA can be daunting, most patients are encouraged to be active. With proper care and treatment, people with DBA can live full lives and happy lives.
To learn more about Diamond Blackfan Anemia, visit CDC on the web.