Thalassemia is a disorder of blood, which is genetic or inherited in nature. Thalassemia interferes with the body’s capacity of making healthy red blood cells in normal quantity, and hence there is a shortage of hemoglobin. This may make the person anemic in a mild to severe way.

What Does Thalassemia Do To Your Body?

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 (RBCs). If there is not enough hemoglobin in the RBCs, 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? RBCs 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 are not enough RBCs in the body, there also won’t be proper oxygen supply to the cells in our body. This may cause various symptoms like tiredness, breathlessness, 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.

Signs and symptoms of thalassemia-

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

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, 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 these genes causes thalassemia and the symptoms vary accordingly.

Thalassemia is classified according to these symptoms as different types exhibit different symptoms.

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 any of the genes can cause thalassemia in mild or severe form.

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. Persons suffering from thalassemia get mild to severe anemia. Other symptoms also vary accordingly. Thalassemia cannot be cured, neither can it be prevented. However, if diagnosed early and treated efficiently, the 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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