What is Thalassemia?

What is Thalassemia?

Thalassemia is a genetic blood disorder in which the body is not able to produce sufficient Hemoglobin which causes extreme form of Anemia. Hemoglobin carries oxygen to all parts of the body. Hence, when there is not enough hemoglobin in the body, there is shortage of oxygen supply to various organs which in turn affects the efficient working of the organs. A child may suffer from Thalassemia if both the parents are carriers of Thalassemia.

In order to survive, a Thalassemia Major patient requires painful blood transfusions every 15-20 days. By the time the patient is 25 years old, he/she would have received at least 600 units of blood in his/her body. Also, by this time their family would have spent Rs 10-15 lakhs for the treatment.

What are the Forms of Thalassemia?

There are two main forms of Thalassemia: Major and Minor

Thalassemia Major is a serious disorder in which severe anemia begins and symptoms can be seen within one year of birth. The patient needs to undergo regular blood transfusions and the only cure available so far is Bone Marrow Transplant.

A person who is a Thalassemia Minor may also be called a Thalassemia Carrier. Such a person may not show any symptoms and if they do, it’s likely to be minor anemia. In spite of that, they lead a normal life. Amitabh Bachchan is an example of a Thalassemia Minor. When two carriers get married, then there is a high risk of giving birth to a Thalassemia Major child. This is where the problem occurs.

What causes Thalassemia?

Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in haemoglobin production. One inherits this genetic defect from their parents. If only one of the parents is a carrier of thalassemia, the child may also suffer from Thalassemia Minor. But if both the parents are Thalassemia Minors, the child may suffer from Thalassemia Major.

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What are the Symptoms?

Some of the symptoms include :

  1. Severe Anemia
  2. Slow Growth
  3. Infections
  4. Bone deformations
  5. Paleness
  6. Iron overload
  7. Enlarged spleen

How to Prevent Thalassemia?

To prevent the birth of a Thalassaemia Major children one has to know the Thalassemia status of the parents before the child is born, so one must get himself/ herself tested for Thalassemia before planning for marriage. This test is called HB Electrophoresis. And if one is found to be a Thalassemia Carrier, he/she must avoid getting married to another Thalassemia Carrier in order to prevent the birth of a Thalassemia Major child.

If at all, two Thalassemia Carriers/Minors get married, they must get the unborn testes for Thalassemia Major, within 10-12 weeks of pregnancy, this is known as Pre Natal Diagnosis and abortion is allowed and is legal in such cases.

 


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