You know about the red blood cells in your blood. They are usually round, flexible, like little rubber balls. This allows them to move easily through the tiny blood vessels in your body and carry oxygen to all parts of your body. But in some people, these red blood cells become sickle-shaped (C-shaped), stiff and sticky. This is what we call sickle cell disease (SCD). This is not a disease that is inherited, but a genetic condition.
What exactly is sickle cell disease (SCD)?
Simply put, sickle cell disease is a genetic disease that affects our red blood cells. Inside these red blood cells is a protein called hemoglobin . Its main job is to pick up oxygen from the lungs and distribute it throughout the body. A healthy person's hemoglobin molecule is round and smooth. That's why red blood cells are beautifully round.
But in someone with sickle cell disease, due to a genetic defect, the shape of this hemoglobin molecule changes. Because of this abnormal hemoglobin, the red blood cells become sickle-shaped, stiff, and sticky. Imagine, what would happen if you tried to send hard, sickle-shaped pieces of blood through a thin tube, instead of round balls moving along it? They would clump together and get stuck in the tube, wouldn't they? In the same way, these sickle-shaped cells get stuck in our thin blood vessels, obstructing blood flow. This is what causes various complications such as severe pain and anemia .
What are the common symptoms of this disease?
Babies born with sickle cell disease usually start showing symptoms around 5 months of age. These symptoms can vary from person to person. They may also change over time.
| Symptom | A simple explanation |
|---|---|
| Anemia | Sickle cells are very fragile. Although a normal red blood cell lives for about 120 days, these cells die within 10-20 days. This causes the body to lack red blood cells, making you feel tired and exhausted all the time. |
| Pain Crises | This is the main and most severe symptom of this disease. When sickle cells accumulate and block the delicate blood vessels in the chest, abdomen, limbs, and bones, it causes unbearable pain. If this pain is severe, you may need to be hospitalized and go to the ETU (Emergency Treatment Unit) . |
| Swelling of hands and feet | When the delicate veins that supply blood to the hands and feet become blocked, those areas begin to swell. |
| Frequent infections | These sickle cells sometimes damage organs like the spleen. The spleen is a very important organ in our body's immune system. When it is damaged, the risk of developing infections increases. |
| Yellowing of the eyes and skin | As a large number of damaged sickle cells break down, the skin and whites of the eyes may become yellow (like jaundice). |
| Visual impairments | If these cells become blocked in the blood vessels that supply blood to the eye, the retina of the eye can be damaged and vision problems can occur. |
| Growth retardation | Children with this condition may develop more slowly than other children, and puberty may also be delayed. |
Why does this disease occur? Who is most at risk?
The primary cause of this disease is a genetic defect. It is caused by a defect in a gene (hemoglobin-beta gene) on our chromosome 11, which is involved in the production of hemoglobin.
The most important thing is that for a child to develop this disease, they must inherit this defective gene from both their mother and father.
If both parents are carriers of this defective gene, meaning they do not have the disease but have the gene that causes the disease in their bodies, their child has a 1 in 4 (25%) chance of being born with the disease.
If only one parent inherits the gene, the child becomes a carrier of the disease. They usually do not show symptoms, but they can pass the gene on to their children.
Worldwide, this disease is most common among people of African, Middle Eastern, Southern European, and Asian Indian descent.
How to diagnose the disease? (Diagnosis)
There is a very simple way to detect this. A simple blood test can detect the presence of this defective type of hemoglobin. In many countries, every newborn baby is tested for this.
If you or your child is diagnosed with this condition, your doctor may recommend further testing (such as a special scan to check for risk of stroke). And, because it is a genetic condition, you may also be referred to a genetic counselor.
If you or your partner has sickle cell disease or is a carrier, you can have your baby's amniotic fluid tested during pregnancy to see if they have the disease. Ask your doctor for more information.
What are the treatments?
There are three main goals of treatment for sickle cell disease:
- Preventing pain crises
- Controlling symptoms and providing relief
- Preventing other complications
There are various treatments for this.
Medications
- Hydroxyurea: This medication, taken daily, can reduce the frequency of attacks and reduce complications such as anemia and infections. Pregnant women should avoid taking this medication.
- Painkillers: When a pain attack occurs, painkillers prescribed by the doctor can help control the pain.
- Other medications: Drugs like `Crizanlizumab` (an injection) and `L-glutamine` (a powder) are now being used to reduce pain attacks, and drugs like `Voxelotor` for anemia.
Other treatments
- Blood Transfusions: Donating healthy blood can prevent complications such as anemia and paralysis.
- Stem Cell Transplant: This is a bone marrow transplant. Some children and young adults have the potential to be completely cured of the disease through this. However, a well-matched donor (usually a close relative) must be found for this.
Latest Treatment Methods: Gene Therapy
With the advancement of medical science, very successful and promising treatments for this disease have now emerged. `Casgevy` and `Lyfgenia` are two such latest gene therapies. Simply put, these methods use stem cells taken from the patient's own bone marrow, 'edited' using genetic technology such as `CRISPR`, that is, corrected the defect, turned into healthy red blood cell-producing cells, and then reintroduced into the body. This is a very advanced treatment that can cure the disease.
What is the relationship between sickle cell disease and malaria?
This is a very strange story. Malaria is a serious disease transmitted by mosquitoes. Scientists believe that the sickle cell gene evolved to protect people from malaria. How is that possible? If someone who is a carrier of sickle cell disease (not the disease, just the gene) gets malaria, it is less severe. This is because the sickle-shaped red blood cells prevent the malaria parasite from growing properly inside the body. This is why people with this gene survived in areas where malaria was common, such as Africa.
Take-Home Message
- Sickle cell disease is not a contagious disease, but a genetic disease inherited from parents.
- The main problem here is that the shape of the red blood cells changes and becomes clogged in the blood vessels.
- Severe pain, frequent fatigue (anemia), and infection are the main symptoms.
- By following proper medical treatment and advice, you can control your symptoms and live a normal life. It is very important to stay in regular contact with your doctor.
- Thanks to modern treatments such as gene therapy, there is now very good hope for this disease.
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