Reviewed By: Pramod Kerkar, MD, FFARCSI

Thalassemia is an inherited or genetic disorder of blood. This is caused when the body is unable to make enough hemoglobin, which is an important part of red blood cells. If there is not enough hemoglobin in the red blood cells, they will not be able to function properly, and they will not last longer. As a result, they will get destroyed and there will be very less healthy RBCs flowing in the blood stream.

What Happens If You Have Thalassemia?

Red blood cells perform an important function of carrying oxygen to all the cells in our body. The cells use this oxygen as food to function properly. If there won’t be enough red blood cells in the body, there also will not be proper oxygen supply to the cells in our body. This may cause various symptoms like tiredness, breathlessness, and fatigue in the body. This condition is known as anemia. Those suffering from thalassemia may get anemia which can be mild or severe in nature. Severe anemia can damage the organs, cause organ failure or even lead to death.

People suffering from thalassemia may get following signs and symptoms

  • Bone deformities especially of the face
  • Yellowish and pale skin and eyes
  • Tiredness or fatigue
  • Weakness
  • Slow growth
  • Dark colored urine

The signs and symptoms of thalassemia vary according to the type of the disease. Some types present with mild symptoms while other types present with more severe symptoms.

Types Of Thalassemia

Thalassemia can be categorized in two different ways. One classification is based upon the part of the hemoglobin that is affected- alpha or beta; while the other is based upon the severity of the thalassemia.

Alpha Thalassemia

The alpha part of the hemoglobin is made up of four genes-two from each parent. Defect in one or more than one gene can cause the disease. The condition is then classified into different types. Let us have a look at them.

1 mutated gene-

  • Results in a silent carrier form of the disease
  • This type does not show any symptoms usually
  • This type is also known as alpha thalassemia minima

2 mutated genes-

  • Results in trait form of the disease
  • Symptoms are mild
  • This type is also known as alpha thalassemia minor

3 mutated genes-

  • This results in hemoglobin H type of the disease
  • The symptoms in this type are moderate
  • This type is also known as hemoglobin H disease.

4 mutated genes-

  • This is a rare form of the disease
  • This results in major form of the disease
  • The symptoms of this type are usually very severe and fatal
  • This is also known as Hydrops fetalis with hemoglobin Barts

Beta Thalassemia

The beta part of the hemoglobin is made up of two genes- one from each parent. Defect in one or more than one gene can be responsible for causing the disease. They are then classified accordingly. Let us have a look at the different types of beta thalassemia.

1 mutated gene-

This results in a mild form of the disease

The symptoms are usually mild

This type is also known as the thalassemia minor or beta-thalassemia

2 mutated genes-

This results in moderate to severe form of the disease

The symptoms are usually moderate to severe

This type is also known as thalassemia major or Cooley anemia

Thalassemia intermedia, a milder form can also be seen as a result of 2 mutated genes

Thalassemia is a genetic blood disorder. It is seen to be occurring in several types. The people suffering from thalassemia have a mild to severe anemia, depending upon the severity and type of the disease. Other symptoms vary according to the type of the disease too. Thalassemia cannot be cured, neither can it be prevented. However, it can be treated by certain method, symptoms can be reduced, and the longevity of patients can be increased.

Also Read:

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: December 21, 2018

This article does not provide medical advice. See disclaimer

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