Diamond Blackfan Anemia (“DBA”) is a rare inherited bone marrow failure syndrome, characterized by a failure of the bone marrow (the center of the bone where blood cells are made) to produce red blood cells. This failure causes the patients to become severely anemic. Affected people may have an unusually small head size and a low frontal hairline, along with distinctive facial features such as wide-set eyes, droopy eyelids, a broad, flat bridge of the nose, small, low-set ears, and a small lower jaw.
HOW IS DIAMOND-BLACKFAN ANEMIA DIAGNOSED?
The following tests of hematology are conducted for diagnosis:
1. Blood count
2. Genetic testing
3. Bone marrow biopsy
HOW IS DIAMOND-BLACKFAN ANEMIA TREATED?
Corticosteroids can be used to treat anemia in DBA. In a large study of 225 patients, 82% initially responded to this therapy, although many side effects were noted. Some patients remained responsive to steroids, while efficacy waned in others. Blood transfusions can also be used to treat severe anemia in DBA. Periods of remission may occur, during which transfusions and steroid treatments are not required. Bone marrow transplantation (BMT) can cure hematological aspects of DBA. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage. However, adverse events from BMTs may exceed those from iron overloading
DID YOU KNOW?
Diamond Blackfan Anemia is the preferred name for this disorder but other names for DBA include:
Blackfan Diamond syndrome
Congenital pure red cell aplasia
Congenital hypoplastic anemia