Synonyms

• Alpha-thalassemia, alpha thalassemia major, alpha thalassemia minor, alpha thalassemia trait, anemia, beta-thalassemia, beta thalassemia intermedia, beta thalassemia minor, Cooley's anemia, erythroblastic anemia, hemoglobin H disease, hemoglobinopathies, hereditary leptocytosis, hydrops fetalis, Mediterranean anemia, sickle cell anemia, sickle cell disease, thalassaemia (British), thalassemia, thalassemia intermedia, thalassemia (beta type), thalassemia major, thalassemia minor, thalassemia trait, thalassemic syndrome.

Background

• Thalassemia (British spelling "thalassaemia") is caused by a mutated or missing gene that is part of hemoglobin production. Hemoglobin is a protein in red blood cells that is responsible for carrying oxygen. Thalassemia is a hemoglobinopathy, which is a disease of globin protein structures. In thalassemia, the levels of hemoglobin are reduced and there are fewer red blood cells circulating in the blood than normal. A reduced number of red blood cells is also known as anemia, which may be mild or severe.
• The structure of the most common form of hemoglobin comprises four protein chains: two alpha hemoglobin (or alpha-globin) proteins and two beta hemoglobin (beta-globin) proteins. Alpha thalassemia occurs when there is a defect in one of the two genes that make alpha hemoglobin and it is classified according to the number of defective genes and the severity of anemia. Beta thalassemia occurs as a result of defective beta hemoglobin proteins and is also classified by the number of defective beta genes and the severity of anemia. The most severe form of beta thalassemia is sometimes called Cooley's anemia.
• There is a third form of thalassemia, delta thalassemia, which is not as clinically important as the alpha and beta forms. Only about 3% of hemoglobin contains any delta chains. Therefore, a defect in a delta gene has a limited effect on hemoglobin. Often an individual with delta defects has normal blood cell counts. Even though there is no immediate physical consequence of delta thalassemia, it can interfere with the diagnosis of beta thalassemia, which can be severe.
• Thalassemia is an inherited disease that may be inherited as an autosomal recessive or dominant trait depending on the type. Most thalassemias are inherited as recessive traits. Thalassemia is autosomal dominant in a very small percentage of beta thalassemia cases. A person who has only one mutated or defective gene typically does not experience symptoms and is called a carrier (thalassemia trait or thalassemia minor).
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Types of the Disease

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Risk Factors

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Causes

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Signs and Symptoms

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Complications

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Diagnosis

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Treatment

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Integrative Therapies

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Prevention

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Author Information

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Bibliography

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