Have your red blood cells become 'spherical' too? Let's talk about hereditary spherocytosis!

Sometimes things happen inside our bodies without us even realizing it. Do you or someone in your family feel tired all the time? Maybe your skin is turning a little yellow, or you have a little difficulty breathing? These can sometimes be symptoms of a less common but important condition called Hereditary Spherocytosis , which we are going to talk about today. So let's see what this is?

What is Hereditary Spherocytosis?

Simply put, this is an inherited blood disorder . What happens is that our red blood cells break down faster than normal. This causes a condition called hemolytic anemia .

Now look, we have red blood cells in our bodies. These are the cells that carry oxygen throughout the body. Normally, these red blood cells are like discs, bent inwards on both sides, and they're flexible. They're like little `donuts`, but without a hole in the middle. Because of this flexibility, they can squeeze through even the smallest blood vessels.

But in this hereditary spherocytosis condition, what happens is that the shape of these red blood cells changes. They lose their disc shape and become more like little balls, or spherical . We call these spherical cells spherocytes . The problem is, these spherocytes are not as flexible. They are a little stiff, so when they travel through the blood vessels, especially when they pass through the spleen, they get stuck and break easily. They are removed from the bloodstream more quickly than a normal red blood cell.

Who is affected the most by this situation?

This disease is usually seen most often in people of Northern European or North American ancestry. However, it can affect anyone in the world. According to data, doctors estimate that between 1 in 2,000 and 5,000 people in the world's population may have this disease.

Doctors usually diagnose this disease in infancy or early childhood . Some children start showing symptoms between the ages of 3 and 8. But surprisingly, some people don't show any symptoms until they are 30 or 40. Sometimes, when a newborn baby shows signs of severe anemia within a week of birth, doctors suspect this disease and do blood tests.

How does hereditary spherocytosis affect my body?

In addition to the previously mentioned anemia (hemolytic anemia), many people with this disease may experience several other conditions:

• Splenomegaly: Our spleen is like a filter that cleans the blood. It removes old and damaged red blood cells. So, those spherical `spherocytes` get stuck while trying to pass through the small veins of the spleen. When the number of stuck cells increases, the spleen starts to swell.
• Jaundice: This is when your skin, the whites of your eyes (sclera), and mucous membranes turn yellow. When red blood cells break down too quickly, a yellow substance called bilirubin builds up in the blood. Jaundice occurs when the level of this bilirubin rises.
• Gallstones: If bilirubin levels remain high, gallstones can form.

What are the symptoms of hemolytic anemia caused by the breakdown of blood cells?

In addition to jaundice and spleen swelling, there may be several other symptoms:

• Difficulty breathing (dyspnea): This occurs when there are not enough red blood cells to transport the oxygen the body needs.
• Fatigue: A feeling of extreme tiredness that makes it impossible to perform daily tasks.
• Rapid heartbeat (tachycardia): The heart starts beating faster than it should. When this happens, the heart doesn't have enough time to fill with blood, which reduces the amount of oxygen the body needs.
• Hypotension: Blood pressure that is lower than expected.

Does everyone experience all of these situations?

No, it doesn't. Doctors classify this condition, Hereditary Spherocytosis, into three categories (sometimes there is a fourth category, moderate/ severe ), based on the nature of the symptoms.

• Mild: This category includes 20% to 30% of patients. They have hemolytic anemia. However, other symptoms do not appear until they are 30 or 40 years old.
• Moderate: Between 60% and 75% of patients fall into this category. This includes infants and young children. They may have mild to moderate anemia and jaundice.
• Severe: This is the most severe form. About 5% of patients fall into this category. Newborns show signs of severe anemia within a week of birth.

What is the reason for this?

As the name suggests, this is a hereditary condition, meaning it is passed down from parents to children . We all receive copies of genes from our parents. If there are any mutations , or changes, in these genes, they can be passed on to our children. In hereditary spherocytosis, the condition is caused by mutations in five genes . These genes code for proteins that make up the outer shell of red blood cells. (The severity of the disease depends on the type of mutation.)

About 75% of people with the disease inherit it in an autosomal dominant manner. This means that it takes just one mutated gene from one parent to cause the disease. A child born to a parent with the mutated gene has a 50% chance of inheriting that gene.

Others inherit it if they inherit one copy of the mutated gene from both parents. This is called an autosomal recessive pattern. In this case, the parents are only carriers and usually do not show symptoms.

When two carriers have children, each child has a 25% chance of developing the disease, a 50% chance of becoming a carrier, and a 25% chance of being unaffected.

What happens when these genes mutate?

All of our cells have a cell membrane . This is what separates the contents of the cell from the outside environment and protects it. The membrane of red blood cells is made up of a thin membrane on the outside and a cytoskeleton on the inside, made up of proteins that connect them together.

Red blood cells need to bend, twist, and change shape. That's how they can squeeze through tiny blood vessels and pass through the spleen. Think of it like we're folding a soft shirt into a very full suitcase. The red blood cell membrane can change shape when needed, while maintaining its special disc shape.

In hereditary spherocytosis, genetic mutations affect proteins in the red blood cell membrane. This disrupts the connection between the cytoskeleton and the outer membrane. The cytoskeleton is then unable to provide support to the outer membrane. As a result, the red blood cells change from their flexible disc shape to become rigid, spherical ``spherocytes''.

How do doctors diagnose this disease?

Doctors diagnose this disease by looking at your symptoms, asking about your and your family's medical history, and doing several tests. These tests may include:

• Complete blood count (CBC): This provides information about your blood and overall health.
• Peripheral blood smear: This checks the size and shape of the blood cells. It can also check for the presence of spherocytes.
• Reticulocyte count: This checks whether your bone marrow is producing enough healthy red blood cells.
• Direct antiglobulin test (Direct antiglobulin - Coombs test): This checks for autoimmune hemolytic anemia.
• Bilirubin level: A blood test that checks for high levels of bilirubin in the blood.
• Red cell osmotic fragility: This measures how easily red blood cells break down.
• Plasma membrane electrophoresis: This is a special technique that uses an electric field to separate DNA, RNA, or proteins from a gel or liquid. It looks at which protein on the red blood cell membrane has the mutation.

How is this treated?

Treatment options vary depending on the symptoms. For example, a newborn with severe anemia may be given blood transfusions and/or erythropoietin-stimulating agents (ESAs) as soon as the condition is diagnosed. ESAs are drugs that stimulate red blood cell production.

Other treatment options are:

• Phototherapy: A light treatment given to treat jaundice in newborn babies.
• Blood transfusions: Blood is given as a treatment for anemia.
• Splenectomy: The spleen is surgically removed as a treatment for severe conditions.
• Cholecystectomy: This surgery is performed as a treatment for gallstones.
• Iron chelation therapy: Frequent blood transfusions can cause excess iron to build up in the body (hemochromatosis) . This treatment is used to remove this excess iron.

Can hereditary spherocytosis be prevented?

If someone in your family has this disease, that is, if there is a hereditary history, it is difficult to prevent it. Because it is something that comes from genes. But the most important thing to remember is that just because someone in your family has it, it does not mean that you or your children will definitely develop this disease.

For example, if you inherit a mutated gene from one of your parents, you have a 50% chance of developing the disease. If you inherit the mutated gene from both parents, you have a 25% chance of developing the disease. Also, there is a 50% chance that you will be a carrier of the disease and not show any symptoms.

If you have any concerns or concerns about this, you can talk to your or your child's doctor about getting tested for hereditary spherocytosis. The results will help you find out if you or your child has inherited the genetic mutation. Then you can get an idea of ​​what to expect.

Your doctor will explain to you what the test results mean, whether the disease is mild, moderate, or severe, what conditions may develop in the future, and what their early symptoms are.

What should I expect if I/my child has this condition?

Most people with hereditary spherocytosis have a good prognosis . However, not everyone is the same. Your or your child's prognosis depends on factors such as the severity of the disease, whether you have other health problems, and your overall health.

My child has hereditary spherocytosis. How can I take care of him?

Children with this disease need regular follow-up visits . This is to monitor their overall health and to check for new symptoms, such as anemia or gallstones. If your child needs frequent blood transfusions, doctors may recommend vaccination against the hepatitis B virus . They may also advise you on steps you can take to protect your child from viral infections, such as parvovirus B19, which can cause sudden, serious health problems.

Hereditary spherocytosis is a rare inherited blood disorder that requires lifelong medical care . Doctors can treat the sometimes serious health conditions caused by the disease. However, there is no cure for this blood disorder.

Finally, I have to say... (Take-Home Message)

Living with a chronic illness, or caring for someone with one, isn't always easy. And it can be even harder when you're living with a condition that many people don't even know about or have heard of. If you or your child has hereditary spherocytosis, you may feel overwhelmed, alone, and have no one to turn to for help.

Don't worry. Talk to your doctor. They will do everything they can to help you and your baby. They will be happy to answer your questions. Remember, you are not alone in this journey. You can get the support and information you need.

I hope this information is useful to you. Stay healthy!

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