Hemochromatosis is a disease that involves iron overloading.
The body absorbs more than 10% of iron from food and supplements, eventually leading to toxicity levels that often result to multiple organ failure.
Genetic hemochromatosis is caused by the presence of what is called the hemochromatosis gene or HFE gene.
This is aids in regulating the amount or iron that is absorbed in food.
This gene gives instructions in producing a protein that regulates the absorption of iron in the small intestines.
A change in the gene often results to hemochromatosis.
The change in structure often disrupts the three-dimensional state of the gene, causing alteration in the function of the HFE protein.
There are two important sections in the HFE protein that is commonly affected in hemochromatosis.
C282Y and H63D of the hemochromatosis gene are often most affected in the disease.
If both parents have defective C282Y and passed it on to their offspring, iron overloading can result, and hemochromatosis will follow eventually.
In comparison, if an offspring inherits the mutated H63D of the hemochromatosis gene, the increase in iron absorption is not that significant.
If one parent passes H63D and the other gives C282Y, the person who gets both genes rarely develops hemochromatosis.
Conclusive studies on who will develop hemochromatosis are not yet available.
Different studies result to different findings on how many will develop hemochromatosis if the hemochromatosis gene is present.
There are those who have mutated genes but do not develop the disease.
On the other hand, there are also individuals who get negative results in genetic testing, but eventually get hemochromatosis later on.
Symptoms often involve joint and muscle pain, confusion and disorientation, heart arrhythmias, liver enlargement, as well as diabetes.
There are screening tests done to help rule out or confirm the presence of the hemochromatosis gene, although the tests are somewhat expensive.
Series of blood tests are done to measure your ferritin and transferrin levels.
The ferritin tests measures the amount of heme iron in your blood, while transferrin tests are performed to measure the amount of iron that has accumulated in your body.
These tests are to be done in series for there are medical conditions that can alter the result of the tests.
Talk to your doctor if you have a history of hemochromatosis in your family.
The body absorbs more than 10% of iron from food and supplements, eventually leading to toxicity levels that often result to multiple organ failure.
Genetic hemochromatosis is caused by the presence of what is called the hemochromatosis gene or HFE gene.
This is aids in regulating the amount or iron that is absorbed in food.
This gene gives instructions in producing a protein that regulates the absorption of iron in the small intestines.
A change in the gene often results to hemochromatosis.
The change in structure often disrupts the three-dimensional state of the gene, causing alteration in the function of the HFE protein.
There are two important sections in the HFE protein that is commonly affected in hemochromatosis.
C282Y and H63D of the hemochromatosis gene are often most affected in the disease.
If both parents have defective C282Y and passed it on to their offspring, iron overloading can result, and hemochromatosis will follow eventually.
In comparison, if an offspring inherits the mutated H63D of the hemochromatosis gene, the increase in iron absorption is not that significant.
If one parent passes H63D and the other gives C282Y, the person who gets both genes rarely develops hemochromatosis.
Conclusive studies on who will develop hemochromatosis are not yet available.
Different studies result to different findings on how many will develop hemochromatosis if the hemochromatosis gene is present.
There are those who have mutated genes but do not develop the disease.
On the other hand, there are also individuals who get negative results in genetic testing, but eventually get hemochromatosis later on.
Symptoms often involve joint and muscle pain, confusion and disorientation, heart arrhythmias, liver enlargement, as well as diabetes.
There are screening tests done to help rule out or confirm the presence of the hemochromatosis gene, although the tests are somewhat expensive.
Series of blood tests are done to measure your ferritin and transferrin levels.
The ferritin tests measures the amount of heme iron in your blood, while transferrin tests are performed to measure the amount of iron that has accumulated in your body.
These tests are to be done in series for there are medical conditions that can alter the result of the tests.
Talk to your doctor if you have a history of hemochromatosis in your family.
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