Definition
Thalassemias are inherited disorders characterized by abnormal production of hemoglobin . They result in low hemoglobin production, and excessive destruction of red blood cells.
Symptoms
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Definition
Thalassemias are inherited disorders characterized by abnormal production of hemoglobin . They result in low hemoglobin production, and excessive destruction of red blood cells.
Causes
Hemoglobin contains two chains, alpha and beta globin. Genetic abnormalities, which cause an imbalance in the production of either chain, may be inherited.
Beta thalassemias are caused by a mutation in the beta globin chain. The mutated genes must be inherited from both parents to acquire the major form of this disease. If one mutated gene is inherited, the person will be a carrier of the disease, but will not have symptoms. This is the minor form of the disease.
In the major form, children are normal at birth, but develop anemia during the first year of life. Growth failure, bone deformities, and enlarged liver and spleen are some of the problems that can occur. Blood transfusions may modify some of the signs of the disease, but iron overload from the ...
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Treatment
People with severe thalassemia receive regular blood transfusions and folate supplements. People who receive the blood transfusions should avoid iron supplements and oxidative drugs such as sulfonamides, because iron levels in their bodies can become toxic.
Patients who receive significant numbers of blood transfusions require treatment to remove iron from the body (chelation therapy). Bone marrow transplant is being investigated as a treatment, and is most successful in children.
Other Names
Mediterranean anemia; Cooley's anemia
Possible Complications
Untreated, thalassemia major leads to heart failure and liver problems, as well as susceptibility to infection.
Iron overload as a side effect of treatment can cause damage to the heart, liver, and endocrine systems. This complication is managed by daily injections of an iron chelating agent, which binds to iron and causes it to be released from the body in the urine.
Outlook (Prognosis)
In severe thalassemia, death from heart failure can occur between the ages of 20 and 30. Hypertransfusion programs (frequent transfusions) with chelation therapy improve outcome. Successful bone marrow transplant is curative. Less severe forms of thalassemia usually do not shorten life span.
Exams and Tests
This disease may also alter the results of the following tests: