Does anyone in your family have "Sickle Cell Disease"? Let's find out for sure!

Today we are going to talk about a condition that is a bit new to most people, but can be very close to some families. It is called Sickle Cell Disease (SCD). You may have heard this name before. It is actually a disease that is related to our blood, that is, related to the blood, and is hereditary. Let's take a look at what it is exactly, why it happens, and what else can be done about it.

What is Sickle Cell Disease? Let's understand it simply!

Simply put, sickle cell disease (SCD) is a disease that affects the red blood cells in our body, inherited from parents to children. This is one of the most common hereditary blood diseases in the world. Now look, inside our red blood cells there is a protein called hemoglobin . This hemoglobin is very important. Because, it is this protein that carries oxygen throughout our body. It is like an oxygen taxi. The red blood cells of a healthy person are usually round and flexible. Like little rubber balls. Because of this, they can easily crawl through the smallest blood vessels in the body (we call them capillaries) and give oxygen to all our organs and tissues. However, what happens to a person with sickle cell disease is that there is a slight change in this hemoglobin. This abnormal hemoglobin is called hemoglobin S. This causes the red blood cells to become crescent-shaped, or half-moon-shaped, instead of round and flexible. Not only that, but these cells are very stiff, do not bend easily, and stick together. Imagine, what happens when these sickle-shaped cells travel through those tiny blood vessels? They get stuck! Then the blood flow is disrupted. That means, our most important organs and tissues do not get enough oxygen. This is why serious complications such as severe pain, various infections, organ damage, and dysfunction can occur. Another thing is that these sickle-shaped cells do not live as long as normal red blood cells. They die quickly. Then the body always has a shortage of red blood cells. This is what we call anemia . Sickle cell disease is a lifelong condition. But don't worry, there are treatments for this. With these treatments, you can reduce the symptoms and extend your life.

Are there different types of sickle cell disease?

Yes, there are several types of sickle cell disease. These types are determined by the genes a person inherits from their parents.

Hemoglobin SS (HbSS)

This is the most severe form of sickle cell disease. About 65% of people with SCD have this type. These people inherit the hemoglobin S gene from both parents. This means that most or all of their hemoglobin is abnormal. This causes them to have chronic anemia.

Hemoglobin SC (HbSC)

This is mild or moderate.A type that is at a high level. About 25% of people with SCD have this. These people inherit the hemoglobin S gene from one parent and the gene for another abnormal hemoglobin type called hemoglobin C from the other parent.

Hemoglobin (HbS) Beta Thalassemia

These people inherit a hemoglobin S gene from one parent and an abnormal gene called beta thalassemia from the other parent. There are also two subtypes of this:

• “Plus” (HbS beta +): This is a type that affects about 8% of people with SCD and is usually mild.
• “Zero” (HbS beta 0): This is a type that affects about 2% of people with SCD and can be as severe as hemoglobin SS (HbSS) disease.

Other rare varieties

In addition to this, there are other rare types such as hemoglobin SD (HbSD), hemoglobin SE (HbSE), and hemoglobin SO (HbSO) . These people inherit one hemoglobin S gene and another abnormal gene called D, E, or O.

What is the difference between Sickle Cell Anemia and Sickle Cell Disease?

This is where many people get confused. Sickle Cell Disease (SCD) is a general term for all of the different types of sickle cell disease mentioned above. It's like an umbrella. All the other types fall under that umbrella. Doctors only use the term "Sickle Cell Anemia" for the most severe types of SCD that cause anemia . That is, the types called hemoglobin SS (HbSS) and hemoglobin beta zero thalassemia. Got it?

What is the difference between Sickle Cell Trait and Disease?

Some people have only the sickle cell trait . This means that they inherit the hemoglobin S gene from only one parent . The other parent inherits a healthy gene. Usually, people with sickle cell trait do not show symptoms of sickle cell disease. However, they can pass this abnormal gene on to their children. This means that they are carriers of this gene. However, very rarely, even people with sickle cell trait can develop health problems if they become severely dehydrated or if they engage in strenuous exercise . Research is still ongoing on this.

How common is sickle cell disease?

Researchers estimate that about 100,000 people in the United States alone have sickle cell disease. It is most common among people of African descent. It is also found among Hispanic Americans, and people of Mediterranean, Middle Eastern, Indian, and Asian descent. There are also people with this condition in Sri Lanka.

What causes sickle cell disease?

Sickle cell disease is caused by a genetic mutation in a gene called the HBB gene . This HBB gene is responsible for making one part of hemoglobin. People with SCD inherit two mutated HBB genes that make abnormal hemoglobin – one from each parent. This is called an autosomal recessive inheritance. This means that both parents of a child with SCD carry one copy of the mutated gene (which means they can have the sickle cell trait). However, those parents usually do not show symptoms.

Who is at higher risk of developing sickle cell disease (SCD)?

Some groups of people are more likely to develop this disease. They are:

• People of African descent (e.g. African Americans).
• Hispanic Americans in South America and Central America.
• People of Mediterranean, Middle Eastern, Indian, and Asian descent.

What are the symptoms of sickle cell disease?

Symptoms of sickle cell disease usually begin to appear when a child is about 5 to 6 months old. These symptoms can vary from person to person. Some people have mild symptoms, while others can develop serious complications. The main symptoms that can be seen are:

• Frequent pain episodes.
• Anemia : This can cause extreme fatigue, paleness, and weakness.
• Jaundice : Yellowing of the skin and whites of the eyes.
• Painful swelling of the hands and feet.

What are the complications of this condition?

Sickle cell disease can affect many parts of the body. Some effects start suddenly (acute), while others last a long time (chronic). These complications can start early and last a lifetime.

Pain

This is the most common complication of sickle cell disease. The pain occurs when the sickle-shaped cells get stuck in the blood vessels and block the flow of blood. You may have a sudden, severe pain. This is also called a pain crisis, sickle cell crisis, vaso-occlusive crisis (VOC), or vaso-occlusive episode (VOE) . These pain crises can be mild or severe, and can start suddenly and last for any length of time. The pain is most often in the chest, back, legs, and arms. Some people may have chronic pain , which means pain that lasts longer than six months.

Anemia

Sickle cell disease causes anemia because red blood cells die too quickly. Anemia is the lack of healthy red blood cells that can carry oxygen throughout the body. This is whyExtreme fatigue, jaundice, restlessness, dizziness, and lightheadedness may occur.

Acute Chest Syndrome

This is a life-threatening medical emergency . It can damage the lungs, cause difficulty breathing, and reduce oxygen supply to other parts of the body. This complication occurs when sickle cells block the flow of blood and oxygen to the lungs.

Blood Clots

Sickle cell anemia increases the risk of blood clots. This increases the risk of developing a blood clot in a deep vein (deep vein thrombosis - DVT). A DVT can also break off and become lodged in the lungs (pulmonary embolism - PE).

Stroke

If sickle cells get stuck in a blood vessel leading to the brain, blood flow to the brain is blocked. The brain doesn't get enough oxygen to function. This can cause a stroke . About 10% of people with SCD will have a clinical stroke. People with sickle cell anemia are at higher risk of stroke.

Vision Problems

Sickle cells can block blood vessels in the eyes. This most often occurs in the retina . Sometimes there are no symptoms and then vision can be lost suddenly, and it can even lead to permanent blindness.

Priapism

Priapism is a condition in which the sickle-shaped cells in a man's penis become blocked, causing a persistent, painful erection ( priapism ). In addition to pain, priapism can cause permanent damage and erectile dysfunction . Priapism that lasts more than four hours is a medical emergency.

Organ damage and failure

People with sickle cell disease are at risk for problems with their heart, lungs, kidneys, and other organs because they don't get enough blood and oxygen. SCD can lead to multi-organ failure .

Does sickle cell trait or disease affect pregnancy?

Many women with sickle cell disease have healthy pregnancies. But the risks are high. SCD can increase the risk of high blood pressure, blood clots, miscarriages, low birth weight babies, and premature births . So it's important to follow your doctor's advice.

How is sickle cell disease diagnosed?

In Sri Lanka, as in many countries around the world, every newborn baby is screened for sickle cell disease as part of newborn screenings . This involves taking a small blood sample from the baby's heel and testing it. This also checks for a number of other diseases. To confirm the diagnosis, the child's doctor will perform a hemoglobin electrophoresis test. Also, sickle cell disease can be detected before the baby is born through prenatal testing . These tests include:These include chorionic villus sampling and amniocentesis .

Is there a complete cure for sickle cell disease?

Yes, a bone marrow transplant , also known as a stem cell transplant, can cure sickle cell disease. This involves taking healthy bone marrow from a healthy, genetically compatible donor (such as a sibling) and transplanting it into the patient. However, only about 18% of people with SCD can find such a match. There are also risks and complications to this transplant. Your doctor will discuss this with you.

What are the treatments for sickle cell disease?

Treatment for sickle cell disease includes medications, blood transfusions, bone marrow transplants, and gene therapy . Treatment may begin with antibiotics . Newborns with severe SCD are given antibiotics twice a day for up to 5 years to prevent infection.

Other medications

Many people with SCD use medications to reduce the severity of their disease and treat symptoms. Some of these include:

• Voxelotor: This can prevent red blood cells from becoming sickle-shaped and sticking together. This can reduce the destruction of some red blood cells, improve blood flow to the organs, and reduce the risk of anemia.
• Crizanlizumab: This drug helps prevent sickle-shaped red blood cells from sticking to the walls of blood vessels . This can improve blood flow and reduce inflammation and pain.
• Hydroxyurea : This can reduce or prevent several complications of SCD, such as frequent pain crises, acute chest syndrome, and severe anemia.
• L-glutamine: This is a pain reliever. It can help reduce the number of pain attacks you have. Other pain relievers include nonsteroidal anti-inflammatory drugs (NSAIDs) and opiates .

Blood transfusions

Your doctor may recommend some blood transfusions to treat and prevent SCD complications.

• Acute transfusions:These help treat complications that cause severe anemia. Doctors can also use them for crises like stroke, acute chest syndrome, and organ failure.
• Red blood cell transfusions: These can increase the number of red blood cells in the body and provide normal red blood cells that are not sickle-shaped.

Stem cell transplant (also called bone marrow transplant)

SCD can be cured with a stem cell transplant. This requires a well-matched donor (such as a sibling). Research is also underway to optimize transplants from parents or partially matched siblings. Your doctor will discuss the risks and benefits of this treatment based on your specific situation.

Gene Therapy

Researchers are currently investigating gene therapy to treat SCD. This involves either correcting the abnormal hemoglobin gene or inserting a healthy hemoglobin gene into a person's stem cells. Early data on this is very promising. The hope is that gene therapy will one day become a routine treatment for SCD.

Can this be prevented?

Sickle cell disease is a genetic condition, so it cannot be prevented . If you are pregnant, it is a good idea to talk to your doctor about genetic testing or genetic counseling . This will help you and your partner know if you have the gene and what your risk of passing it on to your children is.

What can someone with sickle cell disease expect?

People with sickle cell disease may have a slightly shorter life expectancy than the general population. However, new treatments for SCD have greatly improved life expectancy and quality of life . If the disease is well managed, people with sickle cell disease can live into their 50s.

How do I take care of my child if he has sickle cell disease?

If your child has sickle cell disease, there are many things you can do to manage their condition:

• Always take your child to the doctor.
• Give your child all recommended vaccines on time.
• Help your child exercise regularly and eat a heart-healthy diet .
• When a pain crisis occurs, give your child plenty of fluids and a nonsteroidal anti-inflammatory drug (NSAID) . If the pain cannot be controlled at home, take your child to the hospital for stronger painkillers.

When do you need to go to the Emergency Treatment Unit (ETU) ?

Sickle cell disease can cause a variety of life-threatening complications. If you or your child experience any of the following symptoms, call 911 or go to the nearest emergency room (ER) immediately:

• Severe pain.
• Symptoms of severe anemia: extreme fatigue, dizziness, and shortness of breath.
• Fever over 101.3 degrees Fahrenheit (38.5 degrees Celsius).
• Vision problems.
• Difficulty breathing.
• Penile erection that lasts four hours or more (priapism).
• Symptoms of acute chest syndrome: chest pain, cough, fever.
• Symptoms of a stroke: Sudden weakness on one side of the body, numbness, or loss of consciousness.

Why does sickle cell disease cause pain?

Simply put, sickle-shaped red blood cells look like the letter C, or a crescent moon. As they travel through your blood vessels, they get stuck and block the flow of blood. That's when the pain occurs. Think of it like a traffic jam on a road.

Is sickle cell an autoimmune disease?

No. Although sickle cell disease has some of the characteristics of autoimmune diseases , doctors do not consider SCD to be an autoimmune disease. They consider SCD to be a genetic condition .

Sickle cell disease is a lifelong condition. Stem cell transplants, which can provide a complete cure, are not always possible, and they are risky. However, early diagnosis and treatment can help reduce symptoms and reduce the risk of complications. With regular medical care, you can live a full, active life.

Finally, some important things you need to remember (Take-Home Message)

Okay, so we've talked a lot about sickle cell disease. Here are some key things to remember:

• Sickle cell disease (SCD) is an inherited blood disorder in which the shape of red blood cells changes, causing problems with blood flow.
• The main reason for this is an abnormal type of hemoglobin called hemoglobin S.
• Pain, anemia, infections, and organ damage are common.
• Early detection and proper treatment are very important. Newborn babies are screened for this.
• Although a bone marrow transplant can be a cure, it is not suitable for everyone. There are other treatments, such as medications and blood transfusions.
• You can live well with this disease by making lifestyle changes, following proper medical advice, and acting quickly in an emergency .

If you or someone you know has any questions about sickle cell disease, be sure to see a doctor for advice. There is nothing to be afraid of or ashamed of. The most important thing is to be informed! Sickle cell disease, hemoglobin, red blood cells, anemia, genetic diseases, pain crises, sickle cell treatment