What Is a Hemochromatosis Test?

A hemochromatosis test, also called an HFE test, analyzes a blood sample of a patient for a hereditary gene which causes hemochromatosis, a condition in which the body absorbs too much iron. Once iron builds up in the organs of the body, such as the liver or heart, problems can occur. In addition, iron buildup in the joints and muscles can bring early arthritis. The hemochromatosis test is an easy one to perform, requiring only a small sample of blood which can be drawn from any vein.
Studies have shown that more than half of people who are found to have high iron in blood tests also have some sort of mutation of the HFE gene. This mutation can lead to hemochromatosis. Not all cases are diagnosed, of course, so this number could be higher. Early symptoms of hemochromatosis are easily missed, as they can be as simple as joint pain, weight loss or simply a lack of energy.
A doctor or patient can decide to have a hemochromatosis test if one of the following situations occur. First, it could be known that hemochromatosis runs in the family. If a family member is diagnosed with hemochromatosis, blood relatives may choose to have the test. Second, if both ferritin and transferrin saturation tests reveal high levels of iron, a doctor may choose a hemochromatosis test to rule out the HFE gene mutation. Third, a hemochromatosis test may be used as a preliminary test for a healthy person just to prevent possible complications, such as future liver disease. The third case is rare.
If hemochromatosis is left untreated, it can lead to some debilitating symptoms. These include cirrhosis of the liver, diabetes and heart failure. Detection of hemochromatosis generally occurs between the ages of 40 and 60, although for women it may not occur until after menopause since iron levels fluctuate so drastically during menstrual cycles.
In some cases, a biopsy of the liver is ordered to check for high levels of iron and any scarring that may have occurred. These are warning signs for hemochromatosis, although not definitive ones. The tricky part about hemochromatosis is that so many other common conditions can cause similar symptoms.
There are two tests which analyze the blood for high iron levels: a serum transferrin saturation and a serum ferritin. The serum transferrin saturation test analyzes proteins that carry iron throughout the body to find out exactly how much iron is attached to them. Saturation levels which are greater than 45% are considered to be too high. The second test, serum ferritin, analyzes the amount of iron stored in the liver. If these results are too high, a doctor may go ahead and perform a genetic test to find out if there is a mutation of the HFE gene which has led to hemochromatosis.

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