Thalassemia - Causes and Symptoms of Thalassemia

In this disorder an inherited defect prevents the formation of normal amounts of hemoglobin A, the type of hemoglobin that is found in the red blood cells after the first few months of life. As a partial compensation, the cells contain hemoglobin F, a type of hemoglobin that is usually found only in newborn babies. However, only a relatively small amount of hemoglobin F is made in adults who have thalassemia, so their red blood cells contain less hemoglobin than normal. In addition, the majority of the red blood cells produced in this condition are destroyed within the bone marrow, and those that remain can survive only a short time.
The full-blown form of the disorder, called thalassemia major, occurs only if you inherit the defect from both of your parents. It produces severe anemia. When you inherit the defect from only one parent, the result is the thalassemia “trait.” This rarely causes any symptoms or disability.

What are the symptoms?

The symptoms of thalassemia major are similar to those of hemolytic anemia . They include paleness, tiredness, weakness, breathlessness and palpitations, or increased awareness of your heartbeat. A child who has the disease will be relatively inactive and will also be unable to keep up with his or her playmates.

What are the risks?

Thalassemia trait is several times more common than thalassemia major. Both forms of the disorder are relatively common in per­sons from the Mediterranean area, the Middle East and the Far East.
If you have the trait, you are at little or no risk. If you have thalassemia major, repeated blood transfusions are needed to treat the anemia. This treatment eventually causes a build-up of iron in your body, which damages the liver and the heart. Atone time, this led to death from liver or heart failure. There is now a treatment available that makes it possible to remove the iron.

What should be done?

If you or your child displays any of the symptoms described, see your physician, who will consider the possibility of thalassemia, especially if this disease is known to run in your family. Initially the doctor will arrange for a blood sample to be taken and tested to confirm or reject this possibility.
If you have any form of the disease in your family, even as the trait, and you are considering having a child, be sure to see your physician about the possibility of your child being affected by the disease.

What is the treatment?

The underlying genetic defect that causes thalassemia cannot now be cured. If you have the disease, regular blood transfusions throughout your life will relieve the symptoms of anemia, and it is now possible to use only young red cells in the transfusions. These survive longer, and therefore you can reduce the frequency of the transfusions. Also, you need a drug that causes your body to eliminate excess iron.