Thalassemia: types and symptoms

Do you know what thalassemias are? They are a group of disorders characterized by defects of one of the four chains of amino acids that make up hemoglobin.

In this article we detail the different types of thalassemia, as well as the symptoms they present.


Hemoglobin is A blood metalloprotein characterized by an intense reddish color. Its main function is the transport of molecular oxygen. From respiratory tissues to the rest of the body.

On the other hand, the transport of carbon dioxide from any part of the organism to the respiratory tissues for its expulsion.

It is a protein with a quaternary structure which It consists of four equal subunits in pairs: two alpha chains and two beta chains. The quaternary structure is the most complex degree of organization of proteins. However, not all proteins have it.

types of thalassemias

types of thalassemias

Thalassemias arise when one or more of the amino acid chains that make up hemoglobin are defective. The greater the degree of abnormality, the lower the oxygen transport efficiency of the protein.


how blood clots

It is the most common ailment within this group in people of African descent. In fact, according to certain approximations, 25% of the natives of this continent possess at least one copy of the defective gene which determines inefficient hemoglobin chains.

In general, all types of thalassemia have similar symptoms. What varies is their severity. As, Individuals with alpha thalassemia minor have mild anemia problems.

  • Anemia refers to a deficit in the number of mature red blood cells, which results in inefficient oxygen transport.

On the other hand, for people with alpha thalassemia major the symptoms of anemia are much more severe. This triggers fatigue, feeling of suffocation and paleness (characteristic of thalassemias).

Moreover, these people often have an abnormally large spleen. The spleen is an organ whose main function is the destruction of old red blood cells. However, on certain occasions, it can perform myeloproliferative functions (development of blood cells, especially erythrocytes).

In patients with thalassemia major, the spleen interprets that there is a problem with red blood cell proliferation in the bone marrow and increases its size to fill these deficiencies.

However, this defense mechanism has no result because the problem is not the number of red blood cells. Rather, it is that they are unable to perform their function properly.



Still, There are two types of beta-thalassemia: major and minor. In beta-thalassemia major, also known as Cooley’s anemia, and as alpha-thalassemia major, you develop severe symptoms of anemia, including:

  • Fatigue.
  • Weakness.
  • Feeling of suffocation.

Another characteristic symptom of this type of thalassemia is jaundice (yellowish color of the skin due to the lack of reddish tones provided by functional hemoglobin). Also skin ulcers and even gallstones.

Affected patients may also develop an abnormally large spleen as a defense mechanism of the body. Many times causes severe abdominal pain.

In the same way that the spleen enlarges, bone marrow function increases to try to compensate for these oxygen transport deficiencies, which increases the production of red blood cells. This increase in activity most often leads to an enlargement of the myeloproliferative bones. This transforms them more susceptible to fractures.

In severe cases of thalassemia, alpha or beta, the only solution will be a bone marrow transplant. So that the newly produced erythrocytes carry functional hemoglobins. And in this way it avoids the oxygen transport problems that thalassemia entails.

The post Thalassemia: types and symptoms that first appeared on research-school.



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