Thalassemia

Thalassemia

Thalassemia is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Several types of thalassemia exist, including alpha-thalassemia, beta-thalassemia, Cooley's anemia and Mediterranean anemia.

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 thalassemia, 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

Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.

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 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 defective gene from both parents to develop thalassemia major.

Thalassemia minor occurs if you receive the defective gene from only one parent. Persons with this form of the disorder are carriers of the disease and usually do not have symptoms.

Beta thalassemia major is also called Cooley's anemia.

Symptoms

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).

Children born with thalassemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life.

Other symptoms can include:

• Bone deformities in the face
• Fatigue
• Growth failure
• Shortness of breath
• Yellow skin (jaundice)

Persons with the minor form of alpha and beta thalassemia have small red blood cells (which are identified by looking at their red blood cells under a microscope), but no symptoms.

Treatment

Treatment for thalassemia major often involves regular blood transfusions and folate supplements.

If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.

A bone marrow transplant may help treat the disease in some patients, especially children.

Multiple blood transfusions can result in iron overload. The iron overload related to thalassemia may be treated via chelation therapy with the medications deferoxamine, deferiprone or deferasirox. These treatments have resulted in improved life expectancy in those with thalassemia major.

Deferoxamine is only effective via daily injections which makes its long term use more difficult. It has the benefit of being inexpensive and decent long term safety. Adverse effects are primary skin reactions around the injection site and hearing loss.

Deferasirox has the benefit of being an oral medication. Common side effects include: nausea, vomiting and diarrhea. It however is not effective in everyone and is probably not suitable in those with significant cardiac issues related to iron overload. The cost is also significant.

Deferiprone is given as an oral medication. Nausea, vomiting and diarrhea is relatively common with its use. It appears to be the most effective agent when the heart is significantly involved.