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Thalassemia Essay

820 words - 3 pages

Thalassemia is a blood disorder that causes mild or severe anemia (Antonio, 1993). This happens when people do not have enough hemoglobin and is caused by the inheritance of a defective gene (Nathan, 1998). Thalassemia is passed on from a parent to children through their genes (Simon, 1999). The name thalassemia comes from the Greek word "thalassa" meaning "the sea" because the condition was first described in populations living near the Mediterranean Sea (Nathan, 1998). However, the disease is also prevalent in Africa, Middle East, South Asia, and pacific descent (Simon, 1999). Moreover, thalassemia causes an immense disruption in the hemoglobin synthesis (Nathan, 1998). Although, there are two different types of thalassemia, alpha, and beta thalassemia they both affect the body.Alpha-thalassemia occurs most commonly in people from Southeast Asia and China (Ghosh, 1994). Its is caused when the hemoglobin does not produce enough alpha protein (Ghosh, 1994). The most severe form of alpha thalassemia causes (stillbirth, and death of fetus before delivery) (Ghosh, 1994). Whereas, beta thalassemia, is caused by a mutation in the beta globin chain (Nathan, 1998). Genes from both parents must be inherited to acquire the major form of this disease (Simon, 1999). In beta thalassemia major children are normal at birth, but develop anemia during the first year of life (Simon, 1999). The alpha and beta thalassemia's are distinct diseases that affect the body in different ways. Therefore, the symptoms of thalassemia, which are paleness, tiredness, dark urine, and spleen enlargement all, depend on the type and severity of the disease ( Simon, 1999).Furthermore, Thalassemia may be suspected if an individual shows signs that are suggestive of the disease. In all cases, however, laboratory tests are important to confirm the exact diagnosis. In addition, the following tests are used to determine thalassemia: complete blood test (identifies level of hemoglobin, and red blood cells), family genetic studies (blood tests of family members), and prenatal testing, which can determine if an unborn baby has thalassemia (Antonio/ Shafer, 1993/2000). Moreover, Hemoglobin electrophoresis is also an important test to diagnose thalassemia (Nathan, 1998).Nevertheless, Individuals with beta thalassemia major receive regular blood transfusions, usually on a monthly basis (Simon, 1999). This helps prevent severe anemia and allow for more normal growth and development (Simon, 1999). Patients who receive significant numbers of blood transfusions require therapy to remove iron from the body, called chelation therapy (Nathan, 1998). An additional medication called deferoxamine is administered, that binds to the excess iron, and helps eliminate iron through urine (Nathan, 1998). On the other hand, there is another treatment known as bone marrow transplantation from identical siblings (Nathan, 1998). This is a very dangerous and expensive treatment yet, if it is successful, it can cure...

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