Reviewed By: Pramod Kerkar, MD, FFARCSI

Thalassemia is an inherited blood disorder. In thalassemia disorder, the body is not able to make enough healthier RBCs, which are responsible for transporting oxygen to different cells in the body through hemoglobin. It is classified into various types, depending upon the severity of the symptoms and the part of hemoglobin that is affected.

What Causes You To Have Thalassemia?

Since thalassemia is a genetic blood disorder, it cannot be spread from person to person by direct physical contact. Genetic mutation is a responsible for causing this disorder. Thalassemia is classified into different types based on the number of genes that are affected and the part of the hemoglobin that is affected.

Alpha Thalassemia

The alpha part of the hemoglobin is made up of four genes-two from each parent. The various defects in these genes lead to different types of alpha thalassemia.

1 defective 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 defective genes-

Results in trait form of the disease

Symptoms are mild

This type is also known as alpha thalassemia minor

3 defective 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 defective 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 these genes leads to different types of beta thalassemia

1 defective 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 defective 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

Symptoms Of Thalassemia

Thalassemia shows different signs and symptoms according to the type. However, some of the common signs and symptoms are-

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

Complications Of Thalassemia

Complications of thalassemia can include the following-

Overload of iron-

  • People suffering from thalassemia can get an overload of iron in their bodies
  • This can be either due to too many blood transfusions or because of the disease itself
  • Overload of iron in the blood can damage your vital organs like heart and liver
  • It can also damage the endocrine system, the system which comprises of hormone making glands
  • As a result, various processes in the body can get affected

Infection-

People with thalassemia are more prone to infections

This is mainly because of the frequent blood transfusions

Deformities in bone-

Thalassemia can damage the bone marrow

As a result, the bones may widen, and it may lead to deformities

The damage to the bone marrow can also make the bones brittle and increase your chances of getting broken bones

Splenomegaly-

Enlarged spleen or splenomegaly is a complication of thalassemia, which happens because the spleen must work harder than normal, as a lot of red blood cells are damaged in thalassemia

Splenomegaly can further make things worse by reducing the life of red blood cells obtained through transfusion

Delayed or slow growth-

Anemia can cause a slow growth in a child and thalassemia can result in delayed puberty.

Conclusion

Thalassemia cannot be prevented, and neither can it be cured. The symptoms can be reduced, and lifespan can be increased with proper treatment.

Also Read:

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: December 24, 2018

This article does not provide medical advice. See disclaimer

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