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ThalassemiaDefinition Thalassemias are hereditary disorders characterized by defective production of hemoglobin. This leads to low production, and excessive destruction, of red blood cells. Causes, incidence, and risk factors Hemoglobin contains two chains, alpha and beta globin. Genetic defects may be inherited that cause an imbalance in the production of either chain. Beta thalassemias are caused by a mutation in the beta globin chain. Genes must be inherited from both parents to acquire the major form of this disease. If one 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 disease manifestation, but iron overload from the transfusions may cause damage to the heart, liver, and endocrine systems. The mild form of beta thalassemia produces small red blood cells, with no symptoms. Risk factors include a family history of thalassemia and an ethnic background that has shown susceptibility to the disease. Beta thalassemias occur in people of Mediterranean origin, and to a lesser extent, Chinese, other Asians, and blacks. Alpha thalassemias occur most commonly in people from southeast Asia and China, and are caused by deletion of a gene or genes from the alpha globin chain. The most severe form of alpha thalassemia causes stillbirth (death of a fetus before delivery). Symptoms
Signs and tests
Treatment 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. Expectations (prognosis) In severe thalassemia, death from heart failure can occur between the ages of 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 shorten life span. Complications Untreated, thalassemia major leads to heart failure as well as liver dysfunction, and 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 excreted in the urine. Calling your health care provider Call for an appointment with your health care provider if symptoms develop that are suggestive of thalassemia. Call your health care provider if symptoms develop after treatment. Prevention
Illustrations
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