What you need to know about Thalassemia

Have you ever heard someone in your family or someone you know say they are "anemic"? Sometimes they feel tired all the time, their skin looks pale and sallow. Could this be normal anemia? Yes, it may not be normal, it could be an inherited blood disorder called thalassemia. Don't be scared when you hear this name. This is not a contagious disease. Let's talk about everything simply and clearly.

What exactly is thalassemia ?

Simply put, thalassemia is a blood disorder that we inherit from our parents. A person with this condition has a lower than normal production of healthy red blood cells and a protein called hemoglobin .

Think about it, red blood cells are the delivery service that carries oxygen throughout our bodies. Hemoglobin is like a special box that packs that oxygen and carries it. In a person with thalassemia, these delivery vehicles (red blood cells) and oxygen boxes (hemoglobin) are either lacking in quantity, or there is some defect in them. So, not all parts of the body receive enough oxygen. We also call this anemia .

Thalassemia has many different names. You may have heard these names:

• Alpha thalassemia
• Beta thalassemia
• Cooley's anemia
• Mediterranean anemia

How does thalassemia develop? Who is at risk?

Thalassemia is not a disease that we can catch through food, water, or from another person. It is something that is passed down from parents to children entirely through genes.

There are two main parts to make the protein called hemoglobin. They are alpha globin and beta globin. The "recipe" for making these is in our genes. If there is a mistake in these genes (a mistake in the recipe), the body will not be able to make healthy hemoglobin as needed.

• If you inherit a defective gene from only one parent: You may be a carrier. This means you may have no or very few symptoms, but you can pass the defective gene on to your children.
• If you inherit defective genes from both parents: You may develop mild, moderate, or severe thalassemia.

This condition is commonly seen among people in Asian countries like Sri Lanka, the Middle East, Africa, and Mediterranean countries like Greece and Turkey.

What are the main types of thalassemia?

Thalassemia is divided into two main types, depending on which part of the hemoglobin formula is defective.

Alpha Thalassemia Subtypes

• Carrier status: Having 1 defective gene. No symptoms.
• Alpha Thalassemia Minor: Has 2 defective genes. Symptoms are either absent or very mild.
• Hemoglobin H Disease: Has 3 defective genes. Moderate to severe symptoms.
• Alpha Thalassemia Major: Having all 4 defective genes. This is a very serious condition. The baby often dies in the womb or shortly after birth.

Beta Thalassemia Subtypes

• Beta Thalassemia Minor: Having 1 defective gene. No or very mild symptoms (carrier state).
• Beta Thalassemia Intermedia: Has 2 defective genes. Moderate symptoms.
• Beta Thalassemia Major / Cooley's Anemia: The presence of 2 defective genes. This is a condition with very severe symptoms.

What are the symptoms of thalassemia?

Symptoms depend on the type of thalassemia you have and its severity. Some people may not have any symptoms at all. In severe types, symptoms usually appear before the child is 2 years old.

These are some of the common symptoms:

• Extreme tiredness and fatigue
• Difficulty breathing , wheezing
• Dizziness and weakness
• Pale or yellow skin
• Dark urine
• Appetite
• Stunted growth and delayed puberty in children
• Abnormal facial shape (especially prominent forehead and cheekbones)
• Protruding abdomen (due to an enlarged liver or spleen)
• Frequent headaches
• Weakening of bones and easy breakage

How do you find out if you have thalassemia?

Usually, if you don't have symptoms, the condition can be discovered incidentally during a routine blood test done for another reason. If you have symptoms, your doctor will examine you and ask about your family medical history.

After that, it is recommended to do some special blood tests, such as:

• Complete Blood Count (CBC): This measures the amount of red blood cells and hemoglobin in the blood. These are usually low in thalassemia patients.
• Hemoglobin Electrophoresis: This can determine exactly what types of hemoglobin are in your blood and how much of each.
• Genetic Testing: This test helps to identify exactly which type of thalassemia you have.

Diagnosis during pregnancy

If you or your partner is a thalassemia carrier, you can test your baby for the disease before they are born.

• Chorionic Villus Sampling (CVS): A small sample of the placenta is taken and tested at around 11 weeks of pregnancy.
• Amniocentesis: At around 16 weeks of pregnancy, a sample of the amniotic fluid surrounding the baby is taken and tested.

If this condition is diagnosed, you will be referred to a hematologist.

What are the treatments for thalassemia?

Treatment depends on the severity of the condition. A person with a mild condition like thalassemia minor may not need any treatment, but severe cases require lifelong treatment.

The main treatment methods are:

1. Blood Transfusions

Patients with severe thalassemia need blood transfusions to provide them with healthy red blood cells and hemoglobin. They usually have to receive blood transfusions every 2-4 weeks . This gives them the energy to continue their normal activities without fatigue.

2. Chelation Therapy

Due to frequent blood donation and medical conditions, the amount of iron in the body can increase unnecessarily. We call this ``Iron Overload.'' This extra iron can accumulate in vital organs like the heart and liver and damage them.

3. Other treatments

• Bone Marrow or Stem Cell Transplant: A bone marrow transplant from a healthy donor can sometimes completely cure thalassemia. However, this is not done often because of the risks and the difficulty in finding a compatible donor.
• Surgery: Some patients have an enlarged spleen, which requires surgical removal (splenectomy).
• Medications: Medications such as `Luspatercept (Reblozyl)` and `Hydroxyurea` are used to help produce red blood cells and control symptoms.
• Supplements: Your doctor may recommend vitamins like folic acid, which helps make red blood cells. However, do not take iron supplements without medical advice for any reason.

How to live healthy with thalassemia?

Taking care of these things is very important for a person living with thalassemia to live a healthy and happy life.

• Follow your doctor's instructions: Follow your doctor's treatment instructions exactly and on time. Be sure to attend clinics.
• Healthy diet: Eat a balanced diet with plenty of fruits and vegetables. Ask your doctor if you need to limit iron-rich foods (meat, fish, legumes) and iron-fortified foods.
• Get vaccinated: Get all vaccines recommended by your doctor, especially those like the flu shot, because you may be at higher risk for infections.
• Exercise: Engage in light exercise that is appropriate for your body. Talk to your doctor about it.
• Cleanliness: Stay away from people who are sick. Wash your hands often.
• Avoid smoking and alcohol: These are bad for your heart and bones.
• Mental health: Living with a chronic illness can be emotionally draining. If you're feeling stressed or sad, talk to family, friends, or a mental health counselor .

Thalassemia, Blood diseases, Anemia, Hemoglobin, Genetic diseases, Blood donation, Cooley's Anemia