Overview Of Thalassemia

Thalassemia is an inherited blood disorder in which the person’s body either makes an abnormal form of hemoglobin or it doesn’t make enough hemoglobin. Hemoglobin is the protein within red blood cells that gives them the ability to carry oxygen throughout the body. This blood disorder leads to the destruction of a lot of the person’s red blood cells, which then leads to anemia. 

Commonly Associated With

Cooley anemia, Mediterranean anemia, Alpha thalassemia, and Beta-thalassemia

Causes Of Thalassemia

Hemoglobin is composed of two proteins, called:

  • Alpha globin
  • Beta globin

Thalassemia occurs when there is some kind of defect within the gene that controls the production of one of these hemoglobin proteins. 

There are two main types of this condition, and they are:

  • Alpha, when the gene or genes related to the alpha protein are mutated or missing 
  • Beta, when the same type of gene defect affects the beta-globin protein instead

There are many different forms of thalassemia, and each type of the condition has a lot of different subtypes.

For example, both alpha and beta-thalassemia have two forms:

  • Major
  • Minor

The major form only happens when the person inherits the gene defect from both parents. The minor form results from the person inheriting only one faulty gene from one of their parents.

Also, those with the minor form are carriers of the condition, and do not usually have symptoms. 

Symptoms Of Thalassemia

What form of this condition the person has typically dictates the type and severity of their symptoms.

For example, the most severe form of alpha thalassemia results in stillbirth. However, those with beta-thalassemia major (also called Cooley anemia) are born with normal blood levels but develop severe anemia during the first year of their lives. 

Other general symptoms of this condition may include:

  • Shortness of breath
  • Yellow skin (jaundice)
  • Growth failure
  • Facial bone deformities 
  • Fatigue

Those with the minor form of this condition will have small red blood cells but will not otherwise have symptoms.

Exams & Tests

Health care providers will typically perform a physical exam to check for an enlarged spleen. The person’s blood sample will also be sent to a lab for testing.

When that blood sample is examined with a microscope, those with thalassemia will typically have small and abnormally shaped red blood cells.

Other tests include:

  • Complete blood count (CBC), which reveals anemia if the person has it
  • Hemoglobin electrophoresis reveals if the person has an abnormal form of hemoglobin
  • Mutational analysis can help detect the alpha form of the condition, if that’s what the person has

Treatment Of Thalassemia

Common treatments for thalassemia include folate supplements and regular blood transfusions. However, those who have regular blood transfusions should not take iron supplements. If the person does both, they can end up with high amounts of iron in their body, which can be dangerous. 

Also, those who have a lot of blood transfusions will need a treatment called chelation therapy. This removes excess iron from their body.

In some cases, especially for young children, a bone marrow transplant may help treat this condition.