Diamond-Blackfan Anemia (DBA) is a disorder associated with the bone marrow when the marrow does not produce enough quantity of red blood cells leading to acute anaemia. This is a life threatening condition. Symptoms of this condition are similar to other cases of anaemia with pale skin being the most prominent symptom. There can be severe fatigue, rapid heartbeat, heart murmurs as well. People with this condition often have some similar physical characteristics such as a short stature, cleft, thumb abnormality, low bone density, cardiac and kidney problems.
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?
The symptoms of this condition include pale skin, drowsiness, heart murmur and others.