Thalassemia

What is Thalassemia?

Thalassemia is an inherited blood disorder wherein the body produces an improper form of haemoglobin. Haemoglobin is a protein molecule that carries oxygen in the red blood cells. This disorder results in the extreme destruction of red blood cells that lead to anaemia. Anaemia is a condition in which the haemoglobin or red blood cells are less than the normal count.

Thalassemia

It is an inherited disease which is mainly caused by the faulty haemoglobin synthesis. It is transferred by one of the parents who is a carrier of this disease due to either a deletion of particular key gene fragments or a genetic mutation.

Types of Thalassemia

  • Alpha-thalassemia – A disorder in which one of the genes of alpha globin has a mutation or abnormality.
  • Beta-thalassemia – The genes of beta globin are infected.

Causes of Thalassemia

It develops when there is some abnormality in any one of the genes that are involved in the production of haemoglobin and this defect is inherited from the parents. If anyone of the parents has thalassemia, the baby is more likely to develop this disease so-called thalassemia minor.

There are no symptoms at an early stage but likely to be a disease carrier. It is the most common disease in people of Asia, Africa, the Middle East, Turkey, and Greece.

Symptoms of Thalassemia

Beta-thalassemia

Beta thalassemia occurs in two different forms namely thalassemia intermedia and thalassemia major.

Thalassemia symptoms appear generally before a child’s second year of age and severe anaemia concerned with this condition can be fatal. Some of the major signs of thalassemia major include:

  • Paleness
  • Jaundice
  • Fussiness
  • Poor appetite

This kind of thalassemia is so serious that it needs frequent blood transfusions. Thalassemia intermedia is a less serious kind of beta-thalassemia and do not require the patient to go through blood transfusions.

Beta-Thalassemia Trait is found in individuals where there is only one HBB gene mutation in each cell possess mild anaemia.

Alpha-thalassemia

It consists of two major forms namely, Hydrops fetalis and Haemoglobin H disease.

Haemoglobin H can be responsible for bone complexities. The forehead, cheeks, and jaw may overgrow. Moreover, haemoglobin H can cause:

  • An intensely enlarged spleen.
  • Malnourishment.

Treatment for Thalassemia

The treatment depends on its type and severity of the disease. The doctor provides a course of treatment that suits best for a particular case.

Some of the treatments opted for maximum cases include:

  • Bone marrow transplant (BMT)
  • Supplements and Medications
  • Blood transfusions

Few precautions are prescribed by the doctors that include not to take supplements or vitamins and minerals containing iron. This is true when there is a need for blood transfusions. Patients who go through blood transfusions obtain extra iron which a body cannot lose.

If you are receiving a blood transfusion, you may need chelation therapy. It includes taking a chemical’s injection that combines with other heavy metals and iron. This helps eliminate extra iron from the body.

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