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Hemochromatosis and its Genetic Inheritance

BY: Shalini Balan | Category: Genetics | Submitted: 2011-12-27 21:46:52
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Article Summary: "What is Hemochromatosis and how it is caused? Hemochromatosis is genetic disorder that is inherited from both the parents .In this condition the amount of iron in the body is usually higher than the required. The body absorbs and stores more amount of iron, which in turn gets stored in the organs like pancreas, liver, and skin. .."


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Hemochromatosis is genetic disorder that is inherited from both the parents .In this condition the amount of iron in the body is usually higher than the required. The body absorbs and stores more amount of iron, which in turn gets stored in the organs like pancreas, liver, and skin. If they are not properly treated and regularly monitored iron abnormalities may lead to damage of the organs. There is another form of hemochromatosis called secondary hemochromatosis caused due to taking in excessive amounts of iron via food, vitamins, or medication.

Individuals affected with hereditary hemochromatosis may have no symptoms of the disease or on the other hand can have severe symptoms of joint pains heart failure, liver cirrhosis , diabetes mellitus, fatigue, and darkening of skin, loss of sex drive, over accumulations of the iron in the body can slowly lead to serious diseases like Arthritis, Liver disease, including enlarged liver, hepatitis, cirrhosis, cancer, and liver failure, Impotence, Early menopause, Thyroid deficiency, heart abnormalities and related problems, Damage to the adrenal gland.

Treatment involves the removal of the excess iron present in the body. This process is termed as phlebotomy. This in turn depends on the severity of the case. If large amount of iron is present in the body than required, then 2 to 3 times per week iron has to be removed for months or for years. Depending on the amount of overload at diagnosis, reaching normal levels can take up to 100 phlebotomies. This can sometimes be a lifelong treatment. By undergoing treatment any further complications and serious illness can be prevented. Patients with Hemochromatosis should not have any iron supplements and also should avoid alcohols which may lead to the damage of the liver.
Genetic reason for the cause of this kind of diseases is by inheriting altered, or mutated HFE gene, which regulates iron absorption in our bodies. A person who inherits a defective gene from each parent will develop hemochromatosis. A person who inherits a defective gene from one parent is a carrier but usually does not develop the disease. Carriers, however, might have a slight increase in iron absorption. Because of the slight increase in the iron content in the body carriers of the gene may develop cardiovascular diseases. This is because a C282Y mutation occurs in HFE gene. It has been studied that there are two forms of mutations that occur in the HFE gene based on the location in the gene, named as C282Y and H63D. Each form of mutation shows different levels of severity. Individuals who have inherited C282Y mutation appears to cause a more severe form of hemochromatosis than the H63D mutation. Thus, individuals who have inherited two copies of the C282Y mutation will almost always develop symptoms of hemochromatosis,and those who have inherited two copies of the H63D mutation hardly ever develop symptoms. Similarly those who have inherited one C282Y mutation and one H63D mutation have a diverse level of risk than individuals who have a pair of C282Y or H63D mutations. Thus the disease symptoms and the age at which this occurs depend on the combination of alleles a person has inherited from their parents.

The various combination of the gene is represented as follows :
For example C282Y/C282Y means that a person has the C282Y mutation on both of their copies of the gene that causes hemochromatosis.This form of combination can cause more serious form of hemochromatosis than any other. They even show symptoms and if not treated can lead to the damage of the organs. These are also called as 845 G to A mutation.

C282Y/H63D combinations of genes also show symptoms of the disease. Those who have H63D/H63D combination of genes never show any symptoms as there is only less accumulation of iron on the body.
C282Y/Normal combination show mildly increased iron levels and a 1.5-fold to 2-fold increased risk for cardiovascular disease. However those who have taken a genetic test seem to be healthy and are just carriers of the mutated gene.

An unknown/Unknown mutation occurs in a HFE gene which is totally unknown.
Transferrin Saturation Test, Srerum Ferritin Test, Liver Biopsy, Molecular Genetic Testing are done for diagnosing hemochromatosis.

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