THALASSEMIA
What is Thalassemia?
An imbalance in the alpha and beta globin chains necessary for the production of hemoglobin is caused by the inheritance of a defective gene. There are two types of thalassemia, alpha thalassemia and beta thalassemia.
Genes must be inherited from both parents to acquire the disease. If one gene is inherited, the person will be a carrier of the disease, but will not have symptoms.
Growth failure, bone deformities, and enlarged liver and spleen are some of the problems that can occur. Blood transfusions may modify some of the disease manifestation, but iron overload from the transfusions can cause damage to the heart, liver, and endocrine systems.
A milder form of the disease, thalassemia minor, produces small red blood cells, with no symptoms. Risk factors include a family history of thalassemia and an ethnic background susceptible to the disease. The incidence varies widely throughout the world.
What are the Symptoms of Thalassemia?
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Fatigue
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Shortness of breath
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Jaundice
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Bony deformities (mongoloid appearing faces)
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Enlarged spleen
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Peripheral blood smear shows small, abnormally-shaped red blood cells
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Complete blood count shows anemia
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Hemoglobin electrophoresis shows abnormal hemoglobin
What is the Treatment of Thalassemia?
With severe thalassemia, regular blood transfusions and folate supplementation are given. People who receive the blood transfusions should avoid iron supplements and oxidative drugs such as sulfonamides, because iron levels can become toxic.
Patients who receive significant numbers of blood transfusions require therapy to remove iron from the body, called chelation therapy. Bone marrow transplant is being investigated as a treatment and is most successful in children.
In severe thalassemia, death from heart failure can occur between the ages or 20 and 30. Hypertransfusion programs with chelation therapy improve outcome, and successful bone marrow transplantation is curative. Less severe forms of thalassemia usually do not impact on life span.
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