Iron Overload Syndrome

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Red cells and anaemia: Describe the major differences between the primary and secondary iron overload syndromes, relating this to iron metabolism whilst giving specific examples.
The purpose of this essay is to provide an understanding of the importance of iron in the body and to look at the result of an increase in iron levels. It will focus on the different types of primary and secondary iron overload syndromes. In addition to this, the main focus of the essay will be on the major differences between these syndromes. We review the current examples of specific primary and secondary iron overload disorders. We briefly touch upon normal iron metabolism in relation to iron overload.
Iron is an essential element needed in the human body for a …show more content…
As shown in table 1, there are four types of primary iron overload syndromes that have been recognised. Type 1 is a result of mutations on chromosome 6 of the HFE gene; this is an autosomal recessive inherited disorder. Type 1 is the most common syndrome resulting in multiple organ dysfunction (Siah et al., 2006). Type 2 is a much rarer autosomal recessive inherited disorder which stems from mutations on chromosome 1 of the HJV gene that encodes hemojuvelin or on chromosome 19 of the HAMP gene that encodes hepcidin (Kremastinos and Farmakis, 2011). Type 2 appears at an earlier age and is more severe than type 1 (Gunder and Martin, 2011). Type 3 is also an autosomal recessive inherited disorder and is associated with mutations on chromosome 7 encoding transferrin receptor 2. Type 3 presents at an earlier age and has incidences which that were first described in Italian populations. Lastly, type 4 is a result of mutations on chromosome 2 of SLC40A1 that encodes ferroportin (Kremastinos and Farmakis, 2011). Type 4 is inherited in an autosomal dominant fashion unlike the other 3 types (Gunder and Martin, …show more content…
However, chronic long-term transfusions leads to complications such as iron overload (Piperno, 1998). In patients with thalassaemia, the ineffective erythropoiesis and accumulation of iron by constant transfusions leads to iron overload. An untransfused patient may have an iron content varying between 2-5 grams per year, whereas a patient who is undergoing regular transfusions will have double this rate of iron. This has manifested in patients who have undergone 1 year of transfusions, which resulted in iron deposits in their parenchymal tissues wherein iron is extremely toxic (Kushner et al., 2001). This iron accumulation results in organ failures such as cardiac failure, liver failure and severe diabetes mellitus (Kohgo et al.,
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