What is Thalassemia - Causes, Symptoms, Treatment and Myths

Thalassemia sometimes called “thal”. Thalassemia is a hereditary blood disorder caused by a defect in a gene in which the body produces an abnormal form of hemoglobin, which in turn causes anemia. Hemoglobin is the protein molecule in red blood cells that transports oxygen.

Red blood cells are important for the transport of oxygen throughout the body. The disorder causes the excessive destruction of red blood cells, resulting in anemia. Anemia is a condition in which your body does not have enough healthy, normal red blood cells.

What is Thalassemia?


Thalassemia is a blood disorder caused by decreased production of hemoglobin. Hemoglobin is a protein found in red blood cells that carries oxygen throughout the body. Thalassemia causes low levels of hemoglobin in the body, which can lead to anemia. This disorder is mainly of two types: alpha thalassemia and beta thalassemia.

Thalassemia is hereditary, which means that at least one of your parents must have the disease. It is caused by a genetic mutation or the elimination of certain key gene fragments.

Thalassemia is sometimes confused with iron deficiency anemia until special blood tests are performed.

 

Types of Thalassemia:



  • Alpha Thalassemia: In this type of thalassemia, there is a deficiency of the alpha globin gene. There are four types of it, depending on how many alpha globin genes are affected.

  • Beta Thalassemia: In this type of thalassemia, there is a deficiency of the beta globin gene. It is also of two types: beta thalassemia minor and beta thalassemia major.


Alpha thalassemia


In alpha thalassemia, a defective gene has little or no effect on a person. Two defective genes are associated with mild anemia.

Alpha thalassemia occurs when the body can not produce alpha globin. To make alpha globin, you must have four genes, two from each parent.

 

This type of thalassemia also has two serious types: hemoglobin H disease and fetal hydrops.

 

Hemoglobin H:


Three mutant genes produce hemoglobin H disease, which requires regular blood transfusions to treat chronic anemia. This disease can lead to bone problems. Cheeks, forehead and jaws can grow too much. In addition, the disease of hemoglobin H can cause:

  • Malnutrition

  • An Extremely Enlarged Spleen

  • Jaundice


Hydrops fetal:


Hydrops fetalis is an extremely severe form of thalassemia that occurs before birth. Most people with this disease die or die shortly after birth. This condition develops when all four alpha globin genes are altered or absent. It is unlikely that unborn babies with four defective genes survive the pregnancy.

Beta thalassemia


Beta thalassemia occurs when your body can not produce beta globin. Two genes, one from each parent, are inherited to produce beta-globin.

Beta-thalassemia also has several forms:

 

Beta-Thalassemia Major:


Beta-thalassemia major, also called BTM, requires regular blood transfusions for life. BTM is the most common form of the disease in the UK and the most serious.

 

Intermediate Beta-Thalassemia:


Intermediate beta-thalassemia is also known as BTI or non-transfusion thalassemia or NTDT. It is a milder form of the disease and the severity will vary between people, from mild anemia to the need for regular blood transfusions.

The carrier of alpha or beta-thalassemic genes does not cause disease and the carriers do not know that they are carriers. Only special blood tests can confirm the condition of the wearer. The condition of the operator is important for people who want to have children as the genes are passed down from generation to generation.

People with a family history in the Mediterranean, the Middle East, Africa or Asia are more likely to be carriers. Thalassemia is common in these areas as it protects carriers against malaria.

 

Major hospitals for thalassemia treatment in India:

There are several major hospitals in India that specialize in the treatment of thalassemia, including:

AIIMS (All India Institute of Medical Sciences), New Delhi: AIIMS provides advanced facilities and specialist doctors for the treatment of thalassemia.

CMC (Christian Medical College), Vellore: This hospital is a renowned center for the treatment of thalassemia.

Tata Memorial Hospital, Mumbai: This hospital is known for the treatment of cancer and blood disorders, including thalassemia.

Apollo Hospital, Chennai: Apollo Hospitals provides various advanced medical facilities for the treatment of thalassemia.

 

Conclusion:

Thalassemia is a serious blood disorder, but it can be controlled with proper treatment and regular medical supervision. There are many advanced medical facilities and specialist doctors available for the treatment of thalassemia in India. Treatment options such as regular blood tests, iron chelation therapy, and bone marrow transplant can be important for thalassemia patients. With timely diagnosis and proper treatment, thalassemia patients can live a normal and healthy life.

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