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World Thalassemia Day: Causes, Symptoms And Treatment

Thalassemia trait

May 8th is observed as World Thalassemia Day every year with the aim to raise awareness about the condition.

Akshay (name changed) is an 11-year-old kid who doesn’t even remember when was he diagnosed with beta-thalassemia major. He has to go for regular blood transfusion to maintain his red blood cell count which makes him miss his school most of the time. He has to take medications to prevent iron overload in organs and go for regular checkups to know if the key organs of the body are functioning properly.

This is just one of the cases of a person with thalassemia. In India, there are around 20 million carriers of the beta-thalassemia gene with a mean prevalence of 3.3%[1]. However, some ethnic groups like Sindhis, Punjabis, few Muslim groups as well as few tribal populations are known to have a higher prevalence of around 17%[2]. It is estimated that around 200 million people worldwide carry the beta-thalassemia gene and is one of the most common hereditary hemoglobin disorders. This World Thalassemia Day, here is what everyone needs to know about the disease.

What Is Thalassemia?

Thalassemia, in simple terms, is an inherited blood disorder in which the body doesn’t make enough of a protein known as hemoglobin. It is an integral protein of the red blood cells and helps to carry oxygen to different parts of the body. Lack of this protein can not only lead to the destruction of the RBSc but also impairs the transport of oxygen leading to anemia. It could be caused due to a genetic mutation or deletion of a key fragment of the gene which leads to the production of abnormal hemoglobin chain.

Moreover, it is an inherited disorder. So if one of your parents carry 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 show certain symptoms of the disease. However, if both of your parents carry the gene, then your risk of inheriting a serious form of the disease is much higher.

What Are The Types Of Thalassemia?

Before you know about the types of thalassemia, it is important to know 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.

In general, there are two types of thalassemia — alpha-thalassemia and beta-thalassemia and the symptoms are based on the type and subtypes of thalassemia. Hemoglobin is made up of two chains – alpha and beta. So 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.

Beta-thalassemia includes subtypes major and intermedia. 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 mostly appears in the first two years of childbirth. It may require frequent blood transfusions. Thalassemia intermedia is 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 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 a serious condition known as Hemoglobin H. It can cause jaundice, bone issues, malnourishment and enlargement of the spleen. Another serious form of alpha-thalassemia is hydrops fetalis which occurs before birth. In this, 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 thalassemia minor (also known as thalassemia trait) contain either one gene of beta hemoglobin (instead of two) and two genes of alpha hemoglobin (instead of four). They usually do not show symptoms and if they do, then they are very minor. This is why it is difficult to know about the condition. However, people with thalassemia trait can pass on the disease to their next generation.

How Is Thalassemia Diagnosed And Treated?

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 has 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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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 asked 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. Also, if you are undergoing blood transfusion, chelation therapy might be recommended to remove extra iron from the body and prevent iron overload.

As thalassemia 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[3]. 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 high 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 take 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 thalassemia, especially those with joints problems.

-If you are advised to take any medication or are recommended blood transfusions or chelation therapy, then make sure you stick to it. It is important to follow your transfusion and chelation schedules to prevent severe anemia and possible organ damage from iron overload.

Vaccination[3] is a great way to prevent the risk of infections such as flu, and pneumonia, especially if the spleen has been removed. Your doctor might inform you about the vaccinations you might need to stay healthy. So follow the schedule without fail to improve your immunity against severe infections.

You may even consider premarital testing to check if any of the partners carry the gene as knowing about it can help you to lower the risk of thalassemia in your kids. Also, you can go for genetic counseling if you are carrying a child with thalassemia to know how to improve the quality of life of your kid.

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Share this article with every person to know that you care for people with thalassemia and show your support. If you have any queries, then do write to us or comment in the section below.

(The article is reviewed by Dr. Lalit Kanodia, General Physician)

Recommended Reads:

5 Common Signs Of Vitamin Deficiency To Watch Out For!

10 Symptoms Of Anemia Which You Might Be Ignoring

References:

1. Trehan A, Sharma N, Das R, et al. Clinicoinvestigational and demographic profile of children with thalassemia major. Indian J Hematol Blood Transfus. 2015 Mar;31(1):121-6.

2. Ghosh K, Colah R, Manglani M, et al. Guidelines for screening, diagnosis and management of hemoglobinopathies. Indian J Hum Genet. 2014 Apr;20(2):101-19.

3. Healthy Living with Thalassemia. Centers for Disease Prevention and Control (CDC).

4. What is Thalassemia? Thalassemia. Centers for Disease Prevention and Control (CDC). 

5. Beta thalassemia. Your Guide to Understanding Genetic Conditions. Genetics Home Reference. U.S. National Library of Medicine.

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