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What is Thalassemia? Print E-mail
Written by Eli Smith   
Tuesday, 08 December 2009

Thalassemia is an inherited condition that causes a problem in the production of hemoglobin. This leads to anemia, which is a low red blood cell count.

What is going on in the body?


Hemoglobin carries oxygen from the lungs to the tissues. It also carries away the waste product of carbon dioxide. In thalassemia, something goes wrong with the production of hemoglobin. When defective hemoglobin is incorporated into red blood cells, the red blood cells do not function properly. They are more likely to die off. This leads to anemia.

Thalassemia is an inherited disorder. In a person with thalassemia, one or both parents are positive for the disease. When one parent is positive, the child will have thalassemia minor. When both parents are positive, the child will have thalassemia major.

What are the causes and risks of the disease?
Thalassemia is a common genetic disease. It is more common in people of African, Mediterranean, and Asian heritage.

What are the treatments for the disease?
With severe thalassemia, regular blood transfusions are needed. The person will also require folic acid and other nutritional supplements.

An individual who has frequent red blood cell transfusions can develop iron overload. This can be avoided with chelation therapy. This is a process that removes excess iron from the body. This therapy may need to be started early in childhood.

Some treatments for thalassemia are still being tested in clinical trials. These include:
- changing the abnormal hemoglobin genes using medications similar to those used in cancer chemotherapy
- bone marrow transplant and infusions of stem cells, which are starter cells
- specific gene therapy targeted at the abnormal chromosomes

These approaches are usually reserved for severe thalassemia.

What are the side effects of the treatments?
Frequent blood transfusions can lead to an iron overload. Excess iron can end up in various body tissues and cause skin discoloration, liver disease, and diabetes. Chelation, which involves daily injections of an iron-binding agent, can help eliminate the excess iron from the body.

There are risks with any blood transfusion. These include an allergic reaction, infection, and sometimes hepatitis or HIV, the virus that causes AIDS.



Bone marrow transplants can cause the body to attack the new bone marrow. Or the new bone marrow may not function at all.

What happens after treatment for the disease?
A person with severe thalassemia may need frequent blood transfusions for the rest of his or her life.

How is the disease monitored?
Thalassemia is monitored by frequent blood tests. The person will need to be followed closely by the healthcare provider. Any new or worsening symptoms should be reported to the provider.

 

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