Thalassemia Causes, Types, Symptoms, Treatment And Prevention

Thalassemia: Causes, Types, Symptoms, Treatment And Prevention

Last Updated: 24th July, 2022

Thalassemia is a genetic blood condition evidenced by (hemoglobin) the less protein holding oxygen and fewer red blood cells in the bloodstream than standard numbers found in a healthy person. The symptoms of thalassaemia typically include manifestations such as fatigue, weakness, paleness and slow development. Moderate types of thalassemia may not require treatment. However, severe conditions/types such as (Cooley’s Anemia, Mediterranean Anemia) might undoubtedly require blood transfusions or a donor for the stem-cell transplant.

In India alone, we have around 20 million carriers of the beta-thalassemia gene with a mean prevalence of 3.3%. However, some ethnic groups like Sindhis, Punjabis, few Muslim groups as well as few tribal populations are identified to have a higher prevalence of around 17%. It is estimated that around 200 million people worldwide carry the beta-thalassemia gene and is one of the most common hereditary hemoglobin disorders. It’s high time that everyone needs to know about the disease, correctly.


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What Is Thalassemia (Cooley’s Anemia, Mediterranean Anemia)?

Thalassemia or Cooley’s Anemia, Mediterranean Anemia, in simple terms, is an inherited blood disorder in which the body doesn’t make enough of a blood protein known as hemoglobin. It is an integral protein of the red blood cells that helps to supply oxygen to numerous parts of the body. The disorder results in large numbers of red blood cells being destroyed, leading to an acute anemia.

What Are The Causes Of Thalassemia?

It is an inherited disorder. Accordingly, if one of your parents carries the gene, there is a high chance of suffering from thalassemia minor, in which you may not develop the disease but be a carrier of the gene. People with this condition may experience certain symptoms of the disease. However, if both of your parents transfer the gene, then your risk of inheriting a severe form of the disease is exceedingly high.


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What Are The Types Of Thalassemia?

Before you know about the types of thalassemia (Cooley’s Anemia, Mediterranean Anemia), it is critical to identify which part of hemoglobin is affected and how severe is the condition. For example, whether it is thalassemia minor, thalassemia major, thalassemia intermedia, or thalassemia trait.

Conventionally, there are two types of thalassaemia — alpha-thalassemia and beta-thalassemia and the symptoms are based on the type and subtypes of thalassaemia. Hemoglobin is made up of two chains – alpha and beta. Accordingly, if there is an abnormality in the alpha chain of hemoglobin, it causes alpha-thalassemia and any changes in the beta chain may lead to beta-thalassemia.


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Beta-thalassemia (Cooley’s Anemia, Mediterranean Anemia) includes subtypes major and intermediate. Beta-thalassemia major occurs when the genes are missing, which leads to no beta chain in the hemoglobin. This is the most severe form of beta-thalassemia and typically appears in the first two years of childbirth. It may require frequent blood transfusions.

Similarly, thalassemia intermedia are a less severe form of the disease in which both the beta hemoglobin chains are abnormal. This condition may not require frequent blood transfusions. They may show symptoms such as pale skin, poor appetite, jaundice, enlarged organs, and frequent infections.

Alpha-thalassemia (α-thalassemia, α-thalassaemia) is when the body fails to make the alpha hemoglobin chain. You need four genes, two from each parent, to make alpha chains. If three genes are mutated or deleted, it can lead to an acute condition that can cause jaundice, bone issues, malnourishment and enlargement of the spleen.


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Another vital form of alpha-thalassemia is hydrops fetalis which occurs before birth. Therein, all the four genes are altered or deleted leading to no alpha chain hemoglobin. It may lead to stillbirth or death shortly after birth.

People with thalassaemia minor (equally known as thalassemia trait) contain either one gene of beta hemoglobin (instead of two) or two genes of alpha hemoglobin (instead of four). They typically do not display symptoms and if they do, then they are extremely minor. This is why it is strenuous to know about the condition. However, people with thalassemia minor can pass on the disease to their succeeding generation.


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How Diagnosis Of Thalassaemia Is Done?

The first and the foremost thing your doctor might ask if he suspects thalassemia is your family history of the disease. As it is a hereditary condition, the risk of suffering from the condition is higher if anyone in the family retains it. Your doctor may also order for a blood test to check for anemia and abnormal hemoglobin.

Red blood cells may appear abnormal under the microscope, which can indicate thalassemia. Another lab test known as hemoglobin electrophoresis can be performed to identify abnormal hemoglobin in the blood.


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Why Is Premarital Testing Significant?

This check helps you know if any of the partners include the gene. Knowing about it can assist you to lower the risk of Alpha-Thalassaemia or Beta-Thalassaemia in your kids. If only one of the prospects has the carrier gene, it might still be secure to proceed as the future child will only have a 50% chance to have a minor condition, which probably won’t have any symptoms.

If both of the prospects are carriers of thalassemia, the future child will embrace a more significant chance of inheriting a more severe form of the disease. You must undergo genetic counseling in such cases.


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What Is The Treatment Of Thalassemia?

The treatment depends on the type and severity of the disease. Some of the treatment options include medications and supplements, blood transfusion, and bone marrow transplant. In some cases, removal of spleen might be considered. You may be requested to not take supplements or vitamins that contain iron as it can lead to iron overload, which in turn can lead to serious complications of the liver and heart.

Furthermore, if you are undergoing a blood transfusion, chelation therapy might be recommended to remove excess iron from the body and prevent iron overload.


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How Thalassemia Prevention Can Be Done?

As thalassemia (Cooley’s Anemia, Mediterranean Anemia) is a genetic disease, you may not prevent it. However, there are ways you can manage the condition and prevent its health implications with proper diet, exercise, and medications. These include:

  • Diet rich in fruits and vegetables and low in fats is ideal to gain all the essential nutrients required by the body as people with thalassemia are at considerable risk of nutritional deficiencies. Typically, supplements that do not contain iron are recommended. Vitamin D and folic acid supplements are prescribed in some. So talk to your doctor if you are planning to receive any nutritional supplements.
  • People with thalassemia can participate in moderate physical activities such as walking, running, and jogging. Low-impact activities such as yoga or water aerobics are also good to stay physically active. However, strenuous workouts might not be recommended for people with either Alpha-Thalassaemia or Beta-Thalassaemia, especially those with joint problems.
  • If you are advised to receive any medication or are recommended blood transfusions or chelation therapy, then make sure you stick to it. It is vital to follow your transfusion and chelation schedules to prevent severe anemia and possible organ damage from iron overload.

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Vaccination is a good form to prevent the risk of infections such as the flu and pneumonia, especially if the spleen has been removed. Your doctor might inform you about the vaccinations you might need to stay healthy. Therefore, follow the schedule without fail to improve your immunity against severe infections.

Remember to share this article/information with every person to know that you care for people with thalassemia (Cooley’s Anemia, Mediterranean Anemia), undergoing blood transfusions and express your support. If you have any queries or suggestions, then do write to us or comment in the section below.

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