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Haemachromatosis, Its Aetiology, Presentation and Investigation - Coursework Example

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"Hemochromatosis, Its Aetiology, Presentation and Investigation" paper focuses on a condition in which the levels of iron within the body increase and affect particularly the parenchymal cells of organs. The organs which are affected by this overload include the liver, pituitary gland, and heart…
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Haemachromatosis, Its Aetiology, Presentation and Investigation
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Download file to see previous pages This name was designated for this disorder in 1935 by Sheldon. (Barton et al 2000). This disorder is differentiated from hemosiderosis which is also the accumulation of iron but there is no damage to the cells. On the other hemochromatosis is a condition in which there is an iron overload which is mostly associated with damage to the cells (Chatterjea et al 2007).

This condition is more common in men than in women. This is because in women there as losses of iron from the body during menstruation and pregnancy which accounts for the delayed accumulation of iron in the body. Males suffer 5 to 7 times more than females from this condition (Robbins et al 2005 and Sfeir et al 2009). This is condition is also more prevalent in whites as compared to the African Americans and it also the most common autosomal recessive disorder (Drobnik et al 2009). The hereditary type of this pathology affects 1.5 to 3 people out of 1000 (Durupt S et al 2000) and it affects the whites in a greater proportion that is 1 out of 200 to 400 (Drobnik et al 2009).

Hemochromatosis is classified into two main types. This includes primary hemochromatosis and secondary hemochromatosis. The primary condition is also known as idiopathic or hereditary hemochromatosis. Secondary hemochromatosis results from conditions apart from the genetic mutations (Robbins et al 2005, , Lang et al 2005, Mohan 2005 and Chatterjea et al 2007). This condition if left untreated can also be fatal and out of 10000 deaths it is estimated that approximately 1.7 deaths are due to Haemochromatosis. Also it can be more lethal for the people above the age of 50 years as well as in neonates (Sfeir at al 2009).

Hereditary Haemochromatosis occurs when alterations occur to a gene which is known as the HFE gene. It is on the 6p21.3 chromosome that this gene is located. This gene codes for a molecule which is an HLA class I like molecule and this molecule works in the small intestine where it helps in the absorption of the iron. The mutation that mostly occurs in this gene is known as C282Y.  ...Download file to see next pagesRead More
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