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Home > Blog > Thalassemia: Its Type, Causes, Symptoms & Treatment

Thalassemia: Its Type, Causes, Symptoms & Treatment

Thalassemia: Its Type, Causes, Symptoms & Treatment

Max Lab

Jul 17, 2024

Haemoglobin is a protein found in the human body that is produced by red blood cells. The main function of this protein is to supply oxygen to different organs and tissues in the body. Other than this, it is also required to carry carbon dioxide back from these organs to the lungs. Thalassemia is an inherited blood disorder that affects the human body’s ability to produce haemoglobin and also affects the health of red blood cells.

Here is a simple definition of thalassemia:

Thalassemia is a disease that prevents the human body from producing haemoglobin in sufficient quantities. Since this condition causes the body to produce fewer red blood cells, one can also develop anaemia because of it.

Causes of Thalassemia

There are four protein chains in haemoglobin: two alpha globin and two beta globin chains. Each of these chains contains genes, which are passed on to every child by parents. Alpha globin protein chains have a total of four genes, two from each parent. Beta globin protein chains have two genes, one from each parent. When any of these genes is missing or has some kind of defect, it leads to thalassemia.

Types

Depending on the severity of the condition, there are four different types of thalassemia, with each one representing a range. These are: trait, minor, intermediate, and major. The thalassemia trait is the mildest condition in which an individual experiences either very mild symptoms or no symptoms at all. This type of thalassemia does not require any kind of treatment as well. Thalassemia major is the most severe form and usually requires constant medical supervision and a proper course of treatment.

Thalassemia can also be divided into two types based on the defected or missing gene. These are:

  • Alpha Thalassemia: This condition occurs because of a missing/mutated gene(s) in the alpha globin protein. Usually, the severity of this condition is determined by the number of defective/missing genes.
  • Beta Thalassemia: It occurs when the defective/missing gene(s) is related to the beta globin protein. Just like in alpha thalassemia, the severity depends on the number of defective/missing genes.

Symptoms

The symptoms of thalassemia can vary from one person to another, depending on the severity of the condition. However, there are a few common warning signs of thalassemia that one shouldn’t ignore:

  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Breathlessness
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dizziness
  • Dark urine

Complications

Thalassemia is a condition that needs constant medical supervision. If not treated on time, it can lead to a number of complications, such as:

  • Iron Overload
  • Infection

In some cases of severe thalassemia, an individual can also experience major issues, including:

Diagnosis

Like other inherited conditions, thalassemia is also diagnosed in childhood. Usually, the symptoms start appearing within the first two years of a child’s life. There are a few tests that are commonly used for thalassemia diagnosis, which are:

Treatment

There are several different treatments used for thalassemia, depending on its type and severity. Here are a few methods which are considered to be the most effective for thalassemia:

  • Blood Transfusion: In this treatment method, an individual with thalassemia receives injections of red blood cells through a vein. It helps to restore the normal levels of healthy red blood cells and haemoglobin in the body. Usually, these transfusions are performed after a regular interval. The gap between two blood transfusions can also vary depending on the type or severity of one’s condition.
  • Iron Chelation: This therapy for thalassemia is often required to ease the after-effects of blood transfusion. Frequent blood transfusions cause iron overload, which may lead to severe damage to organs. In such cases, iron chelation therapy removes the excess iron from the body.
  • Bone Marrow and Stem Cell Transplant: In some cases, the doctor suggests these transplants in order to cure thalassemia. However, it can only be done when there is a compatible donor. The donor must have the same types of proteins, called human leukocyte antigens (HLA), on the cell surface as the receiver.

Other than these treatments, the doctor may also suggest an individual to take folic acid supplements as well as luspatercept injections. Both of them can help the body produce more healthy red blood cells.

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