Are you aware of Sickle Cell Anemia? Let's talk about it!

Have you ever heard of the name 'Sickle Cell Anemia'? Maybe this name sounds a little strange, or even a little scary. But it is a genetic condition related to our blood. Simply put, what happens in this is that our red blood cells, that is, the red cells in the blood, change in shape. Like a sickle (that's why it's called 'sickle'). This change can cause various health problems. So, shall we talk about this in a little more detail today?

What is Sickle Cell Anemia? What exactly happens?

Sickle cell anemia is what doctors call the most severe form of the large group called 'Sickle Cell Disease'. This is a congenital, that is, hereditary blood disease . The main reason for this is a genetic mutation. Due to this genetic mutation, the red blood cells produced in our body are not normally round, but are bent and stretched like a sickle (in the shape of the letter C). Doctors also call these "sickle cells".

Now look, our normal red blood cells are round and flexible, so they can easily travel through our delicate blood vessels and carry oxygen to every part of the body, every organ, and every tissue. But these sickle-shaped red blood cells are stiff and sticky . So they don't travel easily through the blood vessels, but tend to get stuck in places. Like a traffic jam on a road. The other thing is, these 'sickle' cells break down and die faster than normal red blood cells. Because of all this, the number of healthy red blood cells in your body decreases, causing severe anemia. That is, a lack of blood.

In the past, babies born with this disease had a very low chance of surviving to adulthood. However, with advances in medicine, early detection, and new treatments , this has changed dramatically. Many people now live to be 50 years old or more.

How common is this disease in Sri Lanka? Who is more likely to get it?

It is actually difficult to find statistics about this disease in Sri Lanka. But when you look at the world, this disease is especially common in people of African, Southern European, Middle Eastern or Asian Indian descent. That means there is some genetic link.

What are the symptoms of sickle cell anemia?

The symptoms of this disease can vary from person to person, but there are some common symptoms:

• Fatigue from anemia: When this condition occurs in young babies, they may cry frequently, feel unwell, and refuse to breastfeed.
• Frequent infections: This disease damages our spleen. The spleen is an important part of our immune system. So when it is weak, there is a greater chance of getting diseases and infections. However, thanks to the antibiotics and vaccines that are now available, this risk has been greatly reduced.
• Pain: This is one of the most common and unfortunate symptoms of this disease. The tissues of the body are not getting enough oxygen, which causes damage to the tissues. This damage is what causes pain. The most common areas of pain are the arms, legs, chest, and back. Sometimes it can start as a slight ache and gradually increase, or it can suddenly become unbearable pain.
• Painful swelling in hands and feet: This is one of the first signs of sickle cell anemia in a baby. The swelling occurs because the sickle-shaped red blood cells get stuck in the delicate blood vessels in the baby's hands and feet, obstructing blood flow.
• Yellow-colored eyes and skin from jaundice: Our liver is responsible for filtering red blood cells. In sickle cell anemia, a substance called bilirubin, which is released from sickle cells that die quickly, accumulates in the body, causing jaundice.

These symptoms usually begin to appear when the baby is about 6 to 9 months old . Over time, as the number of abnormal (malignant) cells in the body increases, the symptoms may change and become more severe.

Why does sickle cell anemia develop? What causes it?

Sickle cell anemia is caused by genetic mutations in our genes. Specifically, there is a gene called the HBB gene. This gene instructs us to make a protein called beta-globin, which is part of our hemoglobin. Hemoglobin is, as you know, the most important thing that helps our red blood cells carry oxygen.

So, to get sickle cell anemia, you have to inherit the same altered gene from both your mother and father . Sometimes, if you inherit two altered genes from both parents, you can develop other, possibly less severe, forms of sickle cell disease. Doctors call these 'variant genetic mutations'.

What complications can occur due to this condition?

Sickle cell anemia can cause serious, sometimes life-threatening complications . For example, people with this disease often require emergency medical care and hospitalization, especially for conditions called acute chest syndrome (ACS) and vaso-occlusive crisis (VOC).

There are other complications:

• Chronic kidney disease: This condition can occur when the kidneys do not receive enough oxygen, causing tissue damage.
• Detached retinas: This can happen if sickle cells block the blood vessels in the eye.
• Priapism (painful erection): A condition caused by blockage of blood vessels in the penis.
• Splenic sequestration: If sickle cells become trapped in the spleen and block blood flow, this can cause sudden, severe anemia.
• Stroke: Anyone with sickle cell anemia, even young children (pediatric stroke ), is at risk.

What is Acute Chest Syndrome (ACS)?

This is the most common complication of sickle cell anemia. It is also the leading cause of death and the second leading cause of hospitalization. This occurs when sickle cells clump together and block blood vessels in the lungs. Symptoms include:

• Sudden chest pain.
• Cough.
• Fever.
• Difficulty breathing.

What is Vaso-occlusive Crisis (VOC)?

This is when sickle cells block blood vessels. Doctors also call this an "acute pain crisis." In VOC, unbearable pain can occur in the arms, legs, lower back, and abdomen.

Sometimes doctors call VOCs the "invisible illness." Because, in most cases, the only symptom is pain. There's no sign of an injury or other illness. It just hurts.

The main treatment for this severe pain is opioid painkillers. However, some studies have shown that this opioid requirement can lead to social isolation in people with sickle cell anemia, which can lead to depression and anxiety. This is another challenge to face when living with this disease.

How is this disease diagnosed? (Diagnosis)

Doctors diagnose sickle cell anemia by first examining you. They may feel your spleen or liver. They will ask about your symptoms, especially pain in your arms and legs, and about your stomach. They will also ask about your past illnesses and whether you have had any infections. Then they may do tests such as:

• Complete Blood Count (CBC): This involves several tests that specifically look at your red blood cells.
• Hemoglobin electrophoresis: Also called high-performance liquid chromatography, this test analyzes your hemoglobin to detect and measure the abnormal type of hemoglobin that causes sickle cell anemia.
• Genetic tests: Your doctor may order these tests to see if you have the genetic changes that cause sickle cell anemia.

What are the treatments for this? Can it be cured?

Treatment for sickle cell anemia depends on your symptoms and your overall health. For example, if you have severe complications like acute chest syndrome, frequent episodes of severe pain, or if you have a condition like paralysis, your doctor may recommend an allogeneic stem cell transplant. This is currently the only way to completely cure sickle cell anemia .

Other treatments are:

• Blood transfusions.
• Antibiotics for infections.
• Medications that relieve specific symptoms. Some of them are:
• Hydroxyurea: This is an anticancer drug. It is used in infants between 6-9 months, children, and adults. It can reduce the incidence of serious complications and reduce symptoms of anemia.
• Voxelotor: This stops red blood cells from turning into sickle cells. It is given to children over 4 years of age.
• L-glutamine therapy: This medication, given to children over 5 years of age and adults, stops sickle cells from becoming more abnormal.
• Crizanlizumab-tmca: This reduces the frequency of VOC/acute pain crises. It is given to people over 16 years of age.

What will my life be like if I have sickle cell anemia?

For many people, sickle cell anemia is a chronic illness . This means that you will need medical care and support throughout your life. Symptoms can be mild for some, moderate for others, and severe enough to be life-threatening for others. Everyone's situation is different. So talk to your doctor about what to expect. He or she knows your health best and how the disease will affect you.

Does this condition get worse as you get older?

Yes, as we age, other, possibly more serious health problems can arise due to inadequate oxygen delivery to organs and tissues. People with sickle cell anemia are at increased risk of paralysis, lung, kidney, spleen, and liver damage.

What is the average life expectancy of someone with this disease?

Things are much better now than they used to be. With early detection and treatment to reduce complications , people with sickle cell anemia can live into their 50s. Some people live even longer. If you have questions about this, talk to your doctor. He or she can explain it to you.

Is there a way to prevent this disease from developing?

Sickle cell anemia is a genetic disease, so it cannot be prevented . However, you can get a blood test to see if you have the genetic mutation that causes sickle cell anemia. In many developed countries, every baby is tested for the disease at birth. The most important thing is to diagnose the disease early and start treatment .

How can I live well with this disease? (Self-care)

New treatments have allowed people with sickle cell anemia to live much better lives. If you have the disease, consider these things:

• Seek specialist medical care: It is important to seek treatment from a team of hematologists.
• Get regular medical checkups: Maintaining a good relationship with your family doctor and going for regular checkups can help prevent serious complications.
• Consider pain management: Pain is a common part of this disease. Seek advice from a pain management specialist.
• Get mental health support: Sometimes this illness can cause feelings of isolation, depression, and anxiety. If you feel this way, talk to a doctor.
• Protect yourself from infections: Talk to your doctor about getting vaccinated. Take steps to protect yourself from infections.
• Be mindful of your environment: It is very important for people with sickle cell anemia to maintain a balanced body temperature. Stay away from extreme heat and cold environments.
• Look into clinical trials: Doctors and researchers are always testing new treatments. You may have the opportunity to be involved in one.

When should I see a doctor?

If you feel like your symptoms are getting worse, or if you develop new symptoms, see a doctor immediately .

When do you need to go to the Emergency Room?

Sickle cell anemia can cause serious medical conditions. Go to the emergency room immediately if you have any of these symptoms:

• Symptoms of anemia (extreme fatigue, shortness of breath, irregular heartbeat).
• Fever higher than 38.5 degrees Celsius (101.3 Fahrenheit).
• Chest pain.
• Cough.

This condition also increases the risk of stroke. Stroke is a medical emergency . If you have the following symptoms, go to the hospital immediately:

• Problems with body balance or coordination.
• Blurred vision or double vision.
• Confusion.
• Weakness or numbness on one side of the body.
• Difficulty speaking (stuttering).

Finally, a few things to remember

Sickle cell anemia is a truly challenging condition. Years ago, babies born with the disease had very little hope of survival. However, in the past decade or so, medical research has made great strides . As a result, many people are now able to manage this chronic disease and live relatively good lives.

If you or your child has this disease, while you are happy about the progress you have made in the past, be optimistic about the future. Researchers are always trying to find new treatments for this disease. Talk to your doctor and be aware of new clinical trials. Never give up hope . It is very important to follow proper medical advice and have a positive attitude.

` Sickle cell anemia, anemia, hereditary diseases, blood diseases, genetic mutations, hemoglobin, health tips