What Is a Hemochromatosis Test?

Hemochromatosis test is done if you present signs and symptoms that can include liver enlargement, heart arrhythmias, chronic fatigue, and painful muscles and joints. A physical exam is done first along with taking your complete medical history. The history-taking can be uncomfortable for some as it will ask the pattern of menstrual flow and sexual function. If your doctor finds anything suspicious in your physical exam and medical history, he will then order diagnostic tests for hemochromatosis.

A battery of diagnostic exams for hemochromatosis test should be done to come up with an accurate diagnosis. These diagnostic exams are done by taking a blood sample in sometimes repeated intervals because presence of other medical or inflammatory conditions can alter the tests results. The first test is for testing the level of heme iron in your blood, called serum transferrin saturation test. This is to test the amount of iron that is bound to your hemoglobin, a protein responsible for carrying oxygen in the blood. If elevated levels are observed, ferritin levels will then be measured. Ferritin is the type of protein found in different parts of the body such as the liver, spleen, as well as your muscles and joints. This is to hemochromatosis test is done to measure stored amounts of iron in your body. If the result would show elevated levels, HFE gene testing and liver biopsy may be recommended.

HFE Gene testing is done if one member of your family such as your parents or siblings. A blood sample is again taken for analysis to find out the presence of mutated HFE gene such as C282Y and H63D. The test can be very expensive, and not at all accurate. Some tested positive for the genetic testing and did not suffer hemochromatosis. Others got a negative result but eventually developed the condition later on. Before you undergo a test, consult with a genetic counselor in order to know the pro’s and con’s as well as the procedure for the test.

Liver biopsy is done to see if you have iron deposits as well as liver damage indicative of hemochromatosis. This hemochromatosis test is done by getting a small tissue sample while you are under anesthesia. This test can be dangerous as some have experienced bleeding and infection after undergoing the biopsy. All tests for hemochromatosis can be relatively expensive. Consult with your doctor if you wish to undergo testing for you to know all the possible outcomes of each test.

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