Is your child always pale and tired? Could it be Thalassemia?

Does your little one seem tired all the time? Doesn't he run around and play like other children? Does he have a strong reluctance to eat? Has he ever felt pale? It's normal for any mother or father to feel very scared when they see things like this. While these symptoms can often be caused by normal conditions, sometimes there may be a medical condition behind this, such as Thalassemia. So today, let's talk about what Thalassemia is, how it affects our body, and what are the treatments for it.

What exactly is Thalassemia?

Simply put, thalassemia is a hereditary disease that affects our blood . It is not a contagious disease. That means it is not spread from one person to another like a cold. It is something we inherit from our parents through our genes.

To understand this a little better, let's first talk a little about the red blood cells in our blood. Think of these red blood cells as a delivery service that carries oxygen throughout our bodies. The vehicle of this delivery service, that is, the oxygen-carrying cart, is called hemoglobin . Hemoglobin is a special protein found inside red blood cells. This is what carries oxygen from our lungs and distributes it to every cell in the body.

A person with thalassemia cannot make enough of this protein called hemoglobin. Just like when a car is built, if some of the necessary parts are missing or if inferior parts are used, the car will not work properly. This causes a decrease in the number of healthy red blood cells in the body. We call this condition of low red blood cells anemia .

So when the cells in the body don't get the right amount of oxygen, they can't produce the energy they need. That's why thalassemia patients experience various symptoms.

Who is most at risk of developing this disease?

The genetic mutations that cause this are thought to have first evolved in humans as a form of protection against malaria. Therefore, people with genetic ties to regions where malaria is common, such as Africa, southern Europe, and countries in West, South, and East Asia, are at higher risk of developing thalassemia. Since Sri Lanka is also a South Asian country, there are thalassemia carriers and patients among our population.

What causes thalassemia? Let's take a closer look.

That "oxygen cart" called hemoglobin that I mentioned earlier is made up of four protein chains. Two of these are called alpha globin chains, and the other two are called beta globin chains.

We get the "instructions" or "code" to make these chains from the genes we inherit from our parents. Think of these genes as a recipe for making a dish. If there is any flaw or mistake in the recipe, the dish cannot be prepared properly. Similarly, if there is any flaw or deficiency in these genes, the alpha or beta globin chains will not be formed properly. That is when a condition called thalassemia occurs.

• Alpha globin chains: These require 4 genes to make. Two from the mother and two from the father.
• Beta globin chains: These require two genes to make. One from the mother and one from the father.

The type of thalassemia you develop depends on which of these alpha or beta chains has a gene defect. The severity of the disease is determined by the number of defective genes.

What are the main types of thalassemia?

Thalassemia is divided into several main levels depending on the severity of the disease. That is, thalassemia trait, thalassemia minor, thalassemia intermedia, and thalassemia major . In carrier state, you may not have any symptoms. Or you may only have very mild anemia. Thalassemia major is the most severe condition that requires treatment.

There are two main types, depending on whether the genetic defect is in the alpha chains or the beta chains.

1. Alpha Thalassemia

This condition occurs when there is a defect in one or more of the 4 genes that make alpha globin chains. The severity of the symptoms depends on the number of defective genes. Let's look at this in a simple way to understand it.

2. Beta Thalassemia

This condition occurs when there is a defect in one or both of the two genes that make beta globin chains (one from the mother, one from the father).

• One defective gene: This condition is called beta thalassemia minor or carrier state. Symptoms are very mild.
• Two defective genes: Symptoms can range from moderate to severe.
• The intermediate condition is called Thalassemia intermedia .
• The most severe form is called beta thalassemia major or Cooley's anemia . These people require constant medical treatment.

What are the symptoms of thalassemia?

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

No symptoms or very mild symptoms

If you are missing just one of the four alpha genes, you will probably not have any symptoms. If two alpha genes or one beta gene are defective, you may not have any symptoms at all. Or you may only have mild anemia symptoms, such as feeling tired all the time.

Intermediate symptoms (Thalassemia Intermedia)

These people may experience other symptoms in addition to minor anemia.

• Failure to thrive: A child's height and weight do not increase in proportion to their age.
• Delayed puberty.
• Bone abnormalities: Conditions such as osteoporosis.
• Enlarged spleen: The spleen is an organ located on the left side of our abdomen that helps fight infections.

Severe symptoms (Thalassemia Major)

Severe symptoms occur in conditions such as three alpha gene defects (Hemoglobin H disease) and beta thalassemia major (Cooley's anemia). These symptoms usually begin to appear before the child is two years old .

In addition to the above symptoms, you may see the following:

• The food is tasteless.
• Pale or yellow skin (jaundice).
• Dark urine (tea-colored).
• Abnormalities of the facial bones (due to overgrowth of the skull bones).

How to diagnose this disease?

Moderate and severe thalassemia is often diagnosed in early childhood, as symptoms begin to appear within the first two years of a child's life. Your doctor may order various blood tests to confirm the diagnosis.

• Complete Blood Count (CBC): This measures the amount of hemoglobin in the blood, the number of red blood cells, and their size. People with thalassemia have fewer healthy red blood cells and fewer hemoglobin. The red blood cells may also be smaller than normal.
• Reticulocyte count: This measures the number of newly formed red blood cells. This can give you an idea of ​​whether your bone marrow is producing enough red blood cells.
• Iron studies: This test helps to accurately identify whether your anemia is caused by iron deficiency or thalassemia.
• Hemoglobin electrophoresis: This is a particularly important test for diagnosing beta thalassemia.
• Genetic testing: This test is used to diagnose alpha thalassemia.

What are the treatments for thalassemia?

The standard treatments for severe conditions like thalassemia major are blood transfusions and iron-removal therapy.

• Blood Transfusion: Simply put, this is an external blood transfusion. Blood containing healthy red blood cells is given into the body through a vein. This restores the healthy red blood cells and hemoglobin levels. In severe thalassemia conditions (e.g., beta thalassemia major), blood transfusions may be required regularly, such as every 2-4 weeks .
• Iron Chelation Therapy: One of the biggest side effects of frequent blood donations is an unnecessary increase in iron levels in the body. We call this iron overload . This extra iron can build up in important organs like our heart and liver and damage them. Therefore, a person who receives blood frequently is given medication (pills or injections) that removes this extra iron from the body.
• Folic Acid Supplements: Folic acid is given to help the body make healthy blood cells.
• Bone Marrow and Stem Cell Transplant: This is currently the only treatment that can completely cure thalassemia. However, for this, the patient needs a completely compatible healthy donor. Most often, it is a brother or sister. This is a very risky and complex treatment.
• Luspatercept: This is a vaccine given every three weeks. It works by helping the body produce more red blood cells.

What is life like with this disease? Can it be prevented?

If you have thalassemia minor, you can expect a normal life expectancy. Whether your condition is moderate or severe, if you follow the prescribed treatment plan (blood transfusions and iron removal therapy) exactly, you have a good chance of living a long life.

This disease is genetic, so we cannot prevent it. However, genetic testing can help you find out if you or your partner have the thalassemia gene. Knowing this information is very important for couples planning to have a child. Talk to your doctor for further advice on this.

Ultimately, thalassemia is a manageable disease. The type of treatment you need and how often you need it will depend on the severity of your condition. It is important to have an open discussion with your doctor about your condition and your long-term care plan.

Thalassemia, Anemia, Hemoglobin, blood transfusion, genetic disorder, Cooley's anemia, iron overload