Things you need to know about Thalassemia: Let's talk about it simply

Do you always feel tired and exhausted? Maybe your skin is a little pale? These are not just random things, perhaps this anemia, that is, blood deficiency, could be due to this. Today we are talking about 'Thalassemia', a congenital disease related to blood, which is common among many people in our country. Don't be afraid when you hear this name. Let's understand everything about this simply.

What exactly is Thalassemia?

Simply put, thalassemia is a hereditary blood disorder that is inherited from birth . It is not a contagious disease. This condition prevents our body from producing enough healthy hemoglobin.

Now you may be wondering what hemoglobin is. Hemoglobin is a special protein found inside our red blood cells. It works like a 'delivery service' that carries oxygen throughout our bodies. This package called hemoglobin is delivered to every cell in the body by vehicles called red blood cells.

A person with thalassemia has a reduced production of healthy hemoglobin in their body. Therefore, the number of healthy red blood cells in the body also decreases. This condition of reduced red blood cells is what we call anemia , or 'blood deficiency'. When the body's cells do not receive the oxygen they need, various symptoms begin to appear.

That means you might feel things like this:

• Constant feeling of extreme tiredness and fatigue.
• Difficulty breathing.
• Feeling cold.
• Feeling dizzy.
• Pale skin.

What causes thalassemia? Who is at higher risk?

Thalassemia is caused by a defect in our genes. Think of these genes as a 'program code' that contains instructions on how everything in our body should be formed. The hemoglobin protein is formed according to the instructions from these genes. If there is something wrong with these instructions, or if part of them is missing, the body cannot make healthy hemoglobin. We inherit these defective genes from our parents. That is why it is called a hereditary disease.

A hemoglobin molecule is made up of four protein chains: two alpha globin chains and two beta globin chains.

• Four genes are needed to make alpha globin chains (two from each parent).
• Two genes are needed to make beta globin chains (one from each parent).

If there is a defect in the genes that make these alpha or beta chains, thalassemia occurs. The severity of the disease is determined by the number of defective genes.

What are the main types of thalassemia?

Thalassemia can be divided into several main levels based on the severity of the disease. That is, it can range from asymptomatic carrier state (trait), to minor, intermediate, and major. The most severe form, Thalassemia Major, usually requires ongoing treatment.

Thalassemia is divided into two main types, depending on whether the genetic defect is in the alpha chains or beta chains.

1. Alpha Thalassemia

2. Beta Thalassemia

Let's understand these two types in more detail from the table below.

What are the possible symptoms of thalassemia?

The symptoms you experience depend on the type of thalassemia you have and its severity.

Cases without symptoms

If you have a single alpha gene defect or a mild condition like beta thalassemia minor, you may not have any symptoms at all . Or you may feel something like mild fatigue.

Mild and moderate symptoms

In milder cases, such as beta thalassemia intermedia, in addition to mild anemia symptoms, the following may occur:

• Slow growth of children.
• Delayed puberty.
• Bone abnormalities (e.g. osteoporosis).
• Enlargement of the spleen (this is an organ that fights infections).

Serious symptoms

In severe conditions, such as a defect in three alpha genes (Hemoglobin H disease) or beta thalassemia major (Cooley's anemia), symptoms appear before the child is 2 years old. In addition to the above symptoms, the following may be seen:

• Loss of appetite.
• Pale or yellow skin (like jaundice).
• Dark, tea-colored urine.
• Abnormal growth of facial bones.

How to accurately identify this disease?

Moderate and severe thalassemia are often diagnosed in early childhood. This is because symptoms begin to appear within the first two years of a child's life. Your doctor may order various blood tests to diagnose the condition.

• Complete Blood Count (CBC): This measures the number of red blood cells, their size, and hemoglobin levels. People with thalassemia have fewer healthy red blood cells, and they may be smaller in size.
• Iron level testing: This test is important to differentiate between iron deficiency and thalassemia.
• Hemoglobin Electrophoresis: This test is used specifically to diagnose beta thalassemia.
• Genetic Testing: These tests are used to confirm alpha thalassemia and identify carriers of the disease.

What are the treatments for thalassemia?

Treatment options depend on the severity of the condition. Mild cases often do not require treatment. However, there are several main treatments for serious cases.

• Blood Transfusions: Simply put, 'blood donation' . Blood from a healthy person is given to the patient through a vein to restore healthy red blood cells and hemoglobin levels. Patients with beta thalassemia major require regular blood transfusions, usually every 2-4 weeks.
• Iron Chelation Therapy: Frequent blood transfusions can cause an unnecessary increase in iron levels in the body. This is called 'iron overload'. This excess iron can damage organs like the heart and liver. Therefore, medications that remove this excess iron from the body are called 'iron chelation'. These can be taken in pill form.
• Folic Acid Supplements: Folic acid is provided to help the body make healthy blood cells.
• Bone Marrow Transplant: This is the only treatment that can completely cure thalassemia . However, it is a very risky and complex surgery. This requires a healthy donor who is completely compatible with the patient, usually a sibling.

Learn about complications, treatment, and lifespan.

If left untreated, the main complication is damage to the heart, liver, and hormone-producing glands, especially due to iron overload. Therefore, it is very important to take iron chelation therapy as prescribed.

In terms of life expectancy, if you have thalassemia minor, you can expect a completely normal life expectancy. Even if you have moderate or severe disease, if you follow the prescribed treatment (blood transfusions and iron removal) exactly, you have a good chance of living a long and healthy life . Heart disease is the main risk factor for death. Therefore, it is essential to do iron removal treatment without skipping.

Can the disease be prevented? And the ongoing care needed

Thalassemia is a genetic disease, so we cannot prevent it from occurring. However, genetic testing can help you find out if you or your partner are a carrier of the thalassemia gene. If you are planning to have a child, it is important to know this information. For further advice, see a genetic counselor or your doctor.

If you have thalassemia, you will need to have regular blood tests (CBC) and iron levels checked. Your doctor may also recommend that you have your heart and liver function tested at least once a year.

Thalassemia, Anemia, Hemoglobin, Blood donation, Blood transfusion, Genetic diseases