Thalassemia Facts

Posted by Santosh Kumar Menon on May 8, 2019 2:40:48 PM

Thalassemia is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Hemoglobin is the substance in your red blood cells that allows them to carry oxygen. The low hemoglobin and fewer red blood cells of thalassemia may cause anemia, leaving you fatigued. 

If you have mild thalassemia, you may not need treatment. But if you have a more severe form of the disorder, you may need regular blood transfusions. You can also take steps on your own to cope with fatigue, such as choosing a healthy diet and exercising regularly.

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Causes

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in your red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Thalassemia disrupts the normal production of hemoglobin and healthy red blood cells. This causes anemia. With anemia, your blood doesn't have enough red blood cells to carry oxygen to your tissues — leaving you fatigued.

 

Types of Thalassemia

 

The type of thalassemia you have depends on the number of gene mutations you inherit from your parents and which part of the hemoglobin molecule is affected by the mutations. The more mutated genes, the more severe your thalassemia.

There are two main types of thalassemia:

  • Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
  • Beta thalassemia occurs when similar gene defects affect the production of the beta globin protein.

There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:

  • Thalassemia major
  • Thalassemia minor

You must inherit the gene defect from both parents to develop a thalassemia major.

Thalassemia minor occurs if you receive the faulty gene from only one parent. People with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms.

Compiled from leading medical publications

Topics: Disease

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