Contents:
- Medical Video: Pure Red Cell Aplasia
- What are the signs and symptoms of DBA?
- How do doctors diagnose DBA?
- What are the causes and risk factors for DBA?
- What are the treatments for DBA?
- Corticosteroid Therapy (Prednisone, Prednisolone)
- Blood transfusion
- Chelation Therapy
- Stem cell transplant
Medical Video: Pure Red Cell Aplasia
Diamond Blackfan Anemia (DBA) is a rare blood disorder associated with birth defects or abnormal features. In DBA, the bone marrow doesn't make enough red blood cells to carry oxygen throughout the body.
What are the signs and symptoms of DBA?
DBA sufferers experience common symptoms of anemia, such as pale skin, weakness, rapid heartbeat, and heart murmurs. In some cases, there are no obvious physical symptoms from the DBA. However, around 30-47% of DBA sufferers have birth defects or abnormal features that generally involve the face, head, and hands (especially the thumb). In addition, DBA sufferers may also have heart, kidney, urinary tract and genital organs defects. Children who suffer from DBA tend to be shorter for their age and may experience puberty later than normal children.
How do doctors diagnose DBA?
DBA is usually diagnosed during the first year. Some tests can be used to detect DBAs. One test that doctors can do is bone marrow aspiration. This test involves a needle inserted into the bone to extract a small amount of bone marrow fluid before it is examined under a microscope. Blood tests can also be done to see if the patient has a genetic basis for DBA or certain substance abnormalities associated with DBA.
What are the causes and risk factors for DBA?
Based on medical records in the family, more than half of DBA sufferers have genetic causes. Doctors still haven't found the cause.
If someone has DBA, there is a 50% chance that their children will have a DBA too.DBA affects boys and girls, and can attack any racial and ethnic group.
What are the treatments for DBA?
To deal with very low red blood cell counts, there are two most common choices, namely corticosteroid treatment and blood transfusion. In addition, the transplant of bone marrow or stem cells may also be considered by the doctor. Specialists will recommend the best treatment options according to the patient's condition.
Corticosteroid Therapy (Prednisone, Prednisolone)
Corticosteroids can help DBA sufferers by making more red blood cells. This drug is a hard drug that can be used to treat various conditions. Corticosteroids for treatment are not the same as anabolic steroids consumed by athletes and groups of people to increase muscle tone.
In many cases, this therapy is often recommended by doctors for DBA patients. Doctors do not know exactly how corticosteroids work, but about 80% of DBA sufferers who take corticosteroids start producing more red blood cells.
Blood transfusion
Blood transfusion is one way to increase the number of red blood cells. Through blood transfusions, patients can get healthy blood from donors. Some people only need a blood transfusion when the hemoglobin is too low. However, some other people need regular blood transfusions for a long period of time. This condition is called blood transfusion therapy.
In the treatment of blood transfusions, blood is given through a permanent vein or intravenous (IV) device. Blood transfusions are usually given every 4-6 weeks in a treatment center, hospital, or outpatient transfusion center.
Some of the reasons DBA sufferers are regularly scheduled for blood transfusions:
- Other treatments (such as corticosteroids) are not successful
- Side effects from other treatments are not acceptable to the body
- Anemia is very severe or causes complications
Chelation Therapy
One of the risks of chronic transfusion therapy is the buildup of iron in the body. Blood contains a lot of iron. Because the body has no natural way to get rid of iron, iron in the transfused blood accumulates in the body. This condition is called iron overload or excess iron. Iron that continues to accumulate will turn into poisons that threaten the health of other organs in the body. Iron cannot be removed from the blood before transfusion, because iron is an important component of hemoglobin (a protein in red blood cells that carries oxygen). Fortunately, iron overload and organ damage can be prevented by Chelation Therapy.
Chelation therapy use drugs to remove certain metals, such as iron, from the body. These drugs bind iron and release it through urine or feces.
Stem cell transplant
Stem cell transplantation can restore marrow function to make red blood cells. Until now, stem cell transplantation is a common treatment for DBA.
However, physical problems (which are related to DBA, but not related to the bone marrow) such as cleft lip or heart abnormalities, will not be treated. In addition, DBA sufferers will still have the DBA gene, so there is still a 50% chance that the disease will be passed on to children in the future.
Stem cell transplantation is a procedure that is quite expensive and dangerous enough to cause death or severe chronic disease in some patients. Therefore, transplantation is not the main choice of treatment. Other treatments, such as steroid drug therapy (corticosteroids) and blood transfusion therapy, tend to be the first treatment option if possible. Before deciding to undergo a transplant, make sure you consult about the pros and cons of this procedure with the medical team.
