You've probably heard of "anemia" or "anemia" right? Simply put, it's when our body doesn't produce enough red blood cells or the red blood cells we have don't work properly. Red blood cells are the main carriers of oxygen throughout our bodies. So when they are low, we can feel tired and lethargic all the time. These red blood cells are produced in the bone marrow, a soft, spongy tissue inside our bones. Diamond-Blackfan Anemia (DBA) is a special type of anemia that occurs when the bone marrow can't produce enough red blood cells.
What causes Diamond-Blackfan Anemia (DBA)?
Diamond-Blackfan Anemia, sometimes called ``acquired pure red cell aplasia'', is usually diagnosed by doctors before a child is one year old. The main cause of this is changes, or mutations, in genes that are the building blocks of our body.
Remember, sometimes this genetic defect can be inherited from either the mother or the father. But that's not always the case. Some children's genes can also change spontaneously for no reason. The majority of children with DBA have this condition because of a new genetic mutation. Therefore, as parents, there is no need to worry unnecessarily about this. Although a specific genetic cause has been found for almost half of DBA patients, for some people, a specific cause for this condition has not yet been found.
What are the symptoms of DBA?
Children with DBA may also experience many of the common symptoms of other types of anemia. That is,
- Constant fatigue
- Pale skin
- Feeling weak
In addition to these common features, some children born with DBA may have specific external features on their faces and bodies. Let's take a look at what they are.
| Body part | Visible features |
|---|---|
| Head | Having a smaller than normal head. |
| Face | Increased distance between the eyes and a flat nose. |
| Ears | Two small ears that are set lower than normal. |
| Jaw | Having a small lower jaw. |
| Neck | A short, webbed neck. |
| Shoulders | Small shoulder blades. |
| Hands | Unusually shaped thumbs. |
| Mouth | Having a cleft palate or lip. |
In addition, DBA can cause kidney problems , heart defects , and eye problems such as cataracts and glaucoma . Boys can also develop a birth defect called hypospadias, which is when the opening for urine is not at the tip of the penis.
How to accurately identify this disease?
Your doctor can do several tests to determine if your child has DBA. Children with DBA have low red blood cell counts, but normal white blood cell and platelet counts.
The most important thing is not to panic when you see these symptoms, but to see a qualified doctor as soon as possible. He will conduct the necessary tests and provide you with the most accurate information.
These are some of the main tests performed by the doctor.
| Test | What does it look for? |
|---|---|
| Complete Blood Count (CBC) | Many things are measured in the blood, such as the number of red blood cells, white blood cells, platelets, the oxygen-carrying protein hemoglobin, and the volume of red blood cells (hematocrit) . |
| Reticulocyte count | This measures the number of immature, or newly formed, red blood cells. This can help determine whether the bone marrow is producing enough red blood cells. |
| Checking eADA level | About 80% of people with DBA have elevated levels of an enzyme called erythrocyte adenosine deaminase (eADA) . This is what this test looks for. |
| Fetal hemoglobin levels | This is the type of hemoglobin that babies have in the womb. It should decrease after birth. However, children with DBA may still have high levels as they grow older. |
| Bone marrow aspiration and biopsy | A small amount of cells and fluid are taken from the bone marrow using a needle and tested. Children with DBA have very few healthy red blood cells in their bone marrow. |
| Genetic tests | This tests for genes linked to DBA or other anemias inherited from parents. |
What other complications can occur due to DBA?
People with DBA are at slightly higher risk of developing certain diseases and conditions. These include cancers of the blood and bone marrow (acute myeloid leukemia), bone cancer (osteosarcoma), and other diseases in which the bone marrow cannot make healthy blood cells (myelodysplastic syndrome). But don't worry about this. Doctors are constantly monitoring this, so you can take the necessary medical measures at the right time.
What are the treatments for this?
This is the most important and comforting part. Children diagnosed with DBA can live long, successful lives with medical treatment. Some children go into complete remission, meaning that symptoms disappear for a period of time.
The two main treatments used are corticosteroid medications and blood transfusions.
- Corticosteroid drugs: Drugs like `(Prednisone)` stimulate the bone marrow and help it make more red blood cells.
- Blood transfusion: This is a good option if steroid medications are not effective, or if the anemia is severe. This involves giving the child blood or red blood cells from a healthy donor.
- Bone marrow/stem cell transplant: This is the only curative treatment for DBA. However, it is a bit risky. Also, finding a matching donor can sometimes be difficult.
It is essential to discuss all of these treatment options, their pros and cons, very clearly with your doctor, and choose what is best for your child.
Take-Home Message
- Diamond-Blackfan Anemia (DBA) is a rare genetic condition in children where the bone marrow is unable to produce enough red blood cells.
- Along with common symptoms such as frequent fatigue and paleness, this disease can also cause some specific external features on the face and body.
- A doctor can accurately diagnose this disease through blood tests and a bone marrow examination.
- Treatments like steroid medications and blood transfusions can help children live long, healthy lives. A bone marrow transplant is the only curative treatment.
- If you have even the slightest suspicion that your child has these symptoms, don't panic and see a pediatrician immediately. Quick diagnosis and treatment are very important.
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