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Thalassemia (British spelling, "thalassaemia") is an inherited autosomal recessive blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains causes the formation of abnormal hemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias.

Thalassemia is not synonymous with hemoglobinopathies, like sickle-cell disease. Thalassemias result in under production of globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves [1]. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Either or both of these conditions may cause anemia.

The disease is particularly prevalent among Mediterranean peoples, and this geographical association was responsible for its naming: Thalassa is Greek for the sea, Haima is Greek for blood.

There is no cure for thalassemias, and the best treatment available today consists of frequent blood transfusions (every two to three weeks). Bone marrow transplants may also be used, despite the risk of further complications.
(thalassmia.org, helpthals.org)

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