Negative Effects Of Thalassemia

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Thalassemia is known to be an inherited genetic blood disorder that results in mild to severe anemia due to the abnormal formation of hemoglobin. Thalassemia is inherited by either one or both parents. A mutation in either chromosome 11 (Deisserot et al, 1978) effect the synthesis of beta hemoglobin, whereas a mutation on chromosome 16 affect the synthesis of alpha hemoglobin(Deisserot et al, 1977). Hemoglobin is a tetramer made of two alpha chains and two beta chains (Cao et al, 2010). The location of the mutation in the hemoglobin chains is what characterizes the severity and type of thalassemia. Geographically thalassemia is commonly found in places like south-east asia and china (Charoenphandhu et al, 2011).
There are two types of thalassemia, beta thalassemia and alpha thalassemia. Each have different forms of severity depending on the mutation and how negatively it affects the synthesis of the
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Iron overload is due to the chronic transfusions needed to regulate effective red blood cells. The regulation and metabolism of iron is dependant on the regulatory hormone that is produced in the liver, known as hepcidin. Hepcidin helps regulate body iron homeostasis by determining the magnitude of dietary iron release from the enterocytes and stored iron release from reticuloendothelial macrophages (Feng, 2012). When activated it regulates the degradation of Ferroportin which is responsible for the transport of iron throughout the body. Normally hepcidin concentrations will increase in the presence of inflammation and iron overload (Silvestri et al, 2008). However low levels of hepcidin are found in thalassemic patients which causes iron deposition in major organs of the body. In turn this will lead to organ failure and eventually death (Gardenshi et al, 2007). The activation of SMAD 1,5,8/SMAD 4 complex is what causes the expression of

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