Have you ever noticed that your child is always tired and very pale? Sometimes we think that's just how it is with young children, but there may be a reason behind it that we don't know. Today we are going to talk about such a rare, but very important to know blood condition. This is called Diamond-Blackfan Anemia (DBA).
Simply put, what is Diamond-Blackfan Anemia (DBA)?
This is a very rare blood disease. Simply put, what happens is that our bone marrow is unable to produce enough red blood cells. You know, these red blood cells are what carry oxygen throughout our bodies. So when they are not enough, it has a big impact on the functioning of the body.
DBA is a genetic disorder . This means that the condition is caused by a change in the genes. These genetic changes determine how severe the symptoms are. It affects about one in 500,000 babies worldwide. Although it is a lifelong condition, with the right treatment, symptoms can be controlled and a good life can be lived .
What are the symptoms of this disease?
Almost everyone with DBA has anemia. That means a lack of blood. The symptoms can be very mild for some, and can be quite severe for others. Let's take a look at the main symptoms that can be seen.
| Symptom | A simple explanation |
|---|---|
| Fatigue | Because the body does not get the necessary amount of oxygen, you often feel sleepy and too tired to do anything. |
| Paleness of the skin (Pallor) | The palms, lips, and under-eye areas, in particular, appear pale. This is due to the lack of red blood cells, which reduces the red color of the blood. |
| Rapid heartbeat (Tachycardia) | When the body's tissues don't get enough oxygen, the heart has to work harder to make up for the lack. As a result, the heart beats faster. |
| Difficulty breathing | It becomes difficult to breathe at times, such as when walking a short distance or climbing a flight of stairs. |
| Loss of appetite and weakness | You may also notice a loss of appetite and weakness. |
| Headache and swelling of the limbs | Some people may also experience symptoms such as headaches and swelling of the limbs. |
Why is this happening?
Imagine that there is a book that gives instructions for everything in our body, which is called our genes. There is a type of gene that gives instructions for making red blood cells called ``ribosomal protein genes.`` DBA occurs when there is a variation in those genes. Then the process of making red blood cells does not happen properly.
Between 10% and 25% of people with DBA inherit it from their parents. However, in most cases, it is a new-onset condition that no one in the family has had before .
Can this cause other complications?
Yes, DBA carries a risk of several other health problems.
The important thing is that not all of these things happen to everyone. But it is very important to be aware of this and stay in touch with your doctor.
| Possible complications | What does that mean? |
|---|---|
| Birth defects | There is a possibility of being born with certain problems in the heart, kidneys, or limbs. |
| Growth faltering | The child's development may be delayed for their age. |
| Iron overload | Frequent blood donations can cause the body's iron levels to rise unnecessarily. |
| Decrease in other blood cells | Conditions such as a decrease in neutrophils, a type of white blood cell, (Neutropenia), a decrease in platelets (Thrombocytopenia), or a decrease in all types of cells in the blood (Pancytopenia) may occur. |
| Let's also be aware of the risk of cancer. | |
People with DBA have a slightly higher risk of developing certain types of cancer than the general population. These include:
| |
How do doctors find this?
If your doctor suspects this disease, they will run several tests to confirm it.
- Complete Blood Count (CBC): This checks the number of red blood cells, white blood cells, platelets, and hemoglobin (hemoglobin) in the blood. In DBA, red blood cells and hemoglobin levels are very low.
- Reticulocyte Count: Reticulocytes are newly formed, immature red blood cells. A low number of these means there is a problem with the bone marrow making red blood cells.
- Bone Marrow Aspiration and Biopsy: This involves taking a small sample of bone marrow and examining it under a microscope. This can help determine if there is a decrease in red blood cell production.
What are the treatments?
There are several treatment options for DBA. The doctor will determine the most appropriate treatment based on the patient's condition.
1. Corticosteroids: These are steroid-type medications. These medications stimulate the bone marrow and increase the production of red blood cells. Results are usually seen within two to four weeks.
2. Blood Transfusion: Simply put, blood transfusion. Giving the patient red blood cells from donors can quickly restore the body's red blood cell count. This is a treatment that is usually started as soon as the diagnosis is made.
3. Stem Cell Transplant: This is the only way to completely cure this disease . However, this is a somewhat complex, risky, and potentially life-threatening treatment. Therefore, doctors consider each patient individually and only resort to this treatment if absolutely necessary.
What will happen in the future? What about life expectancy?
With proper treatment and regular medical supervision, DBA patients can live a good life. However, this is a condition that requires lifelong care. After the age of 25, the risk of serious complications may increase slightly.
As for life expectancy, it varies from person to person. It depends on the severity of symptoms and response to treatment. Studies have shown that with treatment, about 75% of patients live to be 50 years old . However, since this is a very rare disease, data is limited. Only your doctor can give you the most accurate information about your condition.
When should I see a doctor?
If you or your child has DBA, it is essential to stay in regular contact with your doctor. Never miss your scheduled clinic appointments.
Also, if you feel your symptoms are getting worse, for example, if you suddenly feel more tired or if you get frequent infections , tell your doctor immediately.
What to do in an emergency?
If any of the following symptoms occur, go to the nearest hospital Emergency Department (ETU) immediately.
- Chest pain
- Severe stomach pain
- Sudden severe headache or loss of consciousness (may be signs of stroke)
- Uncontrollable bleeding
Living with a lifelong condition like DBA, which many people have never heard of, is not easy. It can be especially overwhelming when it affects your child. You may feel alone. But remember, you are not alone. Your doctor and medical team will provide you with the support, advice, and treatment plan you need.
Take-Home Message
- Diamond-Blackfan anemia (DBA) is a rare, genetic disease that affects the production of red blood cells in the bone marrow.
- The main symptoms are paleness due to anemia, frequent fatigue, and difficulty breathing.
- Symptoms can be well controlled with steroid medications and blood transfusions. Although stem cell transplantation is performed for complete cure, it is a risky treatment.
- Since this is a lifelong condition, it is very important to receive regular medical monitoring and proper treatment.
- If you or your child have symptoms or questions about the disease, never hesitate to talk to your doctor.
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