Diamond blackfan anemia or short for DBA is a kind of blood disorder which is often diagnosed in children at age one. It is a rare disorder in which children are unable to make enough red blood cells (they are the cells which carry oxygen to every other cell in the human body). The red blood cells are made in the bone marrow and those cells which will later become red blood cells die before they get to develop in the case of children who are diagnosed with DBA. Diamond blackfan anemia equally affect all babies regardless of race and it affects 7 in every one million infants.
The diagnosis of DBA is most commonly made in the first year of life and the symptoms appear as early as when they are just 2 months old. This disorder may be hereditary so it is possible if a member of your family has a history with Diamond blackfan anemiayour baby will be affected too.
Symptoms that show up include:
- Heart murmur
- Rapid heartbeat
- Abnormal pale appearance
Moreover, people who are diagnosed with DBA have a high risk of several other alarming complications that are all related to the malfunctioning bone marrow. They commonly have a higher-than-average risk of developing myelodysplastic syndrome (MDS). It is a type of disorder where undeveloped blood cells unable to fully develop normally. Certain cancers may develop to affected individuals as well such as cancer of blood forming tissue called acute myeloid leukemia (AML) as well as a type of bone cancer called osteosarcoma.
Furthermore, individuals with DBA have abnormal physical appearances such as:
- Unusually small head size (microcephaly)
- Low frontal hairline
- Wide-set eyes (hypertelorism)
- Droopy eyelids (ptosis)
- A flat and broad nose bridge
- Small and low-set ears
- Small lower jaw (micrognathia)
Some people may also have an opening in the roof of the mouth (cleft palate) and it may be accompanied with or without a split in the upper lip (cleft lip). Their neck may also be short and webbed and small higher-than-usual shoulder blades. Their hands also may look unusual like they are malformed and thumbs are missing. The most noticeable physical abnormality is the slow growth which always results in short stature. They also have kidney problem, structural defects of the heart.
The level of severity of DBA may vary even if they come from the same family tree. There is also a non-classical diamond blackfan anemia that has been identified recently. This type of DBA, however, has less severe symptoms which sometimes include mild anemia that begins in adulthood.
Below are some treatment for DBA.
Steroids are strong drugs which can fight inflammation in the body. Even though doctors have no idea exactly how they work in DBA, but results indicate that steroids can make 80% of individuals with DBA produce more red blood cells.
- Blood transfusions
Blood donation can also help individuals with DBA. They should be given health and matched blood every four or six weeks in order to increase the amount of red blood cells.
- Stem cell transplant
This procedure requires finding matched donors that usually come from a close family member. They transfuse their healthy stem into the individual with DBA.
Bottom line, Diamond blackfan anemia is a serious illness that needs to be diagnosed since the children are in their first year of age.