Hemachromatosis test: procedures and how to read the results & bull; hello healthy

Definition

What is hemachromatosis?

Hemochromatosis gene test or Hemochromatosis Gene Test (HFE test) is a blood test that is done to check for genetic hemochromatosis, an inherited disease that causes the body to absorb too much iron. As a result, there is clotting of iron in the blood, liver, heart, pancreas, joints, skin and other organs.

In its early stages, hemochromatosis causes joint pain and abdominal pain, weakness, fatigue, and weight loss. This condition also causes liver injury (cirrhosis), darkening of the skin, diabetes, infertility, heart failure, irregular heartbeat (arrhythmia), and arthritis. In some people, these signs are not visible at an early stage.

Hemochromatosis is commonly detected in men aged 40-60 years. In women, signs of hemochromatosis will not be detected until menopause because, until then, it is normal for women to lose large amounts of blood and iron during menstruation.

When should I undergo hemachromatosis?

The HFE test is done to find out if a person has a high risk of developing hemochromatosis. The HFE test is especially recommended for people who have a family (parents, siblings, siblings) with a medical history of this disease. This examination is done when it is confirmed that you have iron levels that exceed normal limits in your blood. The HFI test will track and identify mutations in the HFE gene. These mutations are called C282Y and H63D.

Precautions & warnings

What should I know before undergoing hemachromatosis?

The HFE test cannot predict whether you will develop hemochromatosis. Although this test can track the most common mutations in the HFE gene, there may be other mutations that were not found during the test. You may have an HFE mutation and not catch the disease, or you may experience symptoms but the test results don't find any mutations. The HFE test can identify the cause of high iron levels in the body and eliminate the need for other follow-up tests, such as a liver biopsy.

Iron and ferritin levels can also be observed at the same time as the HFE test.

Process

What should I do before undergoing hemachromatosis?

There is no special preparation before the HFE test. Consult with your doctor about any concerns you have about the HFE test, its risks, how the test is going to be, or what results you might get afterward.

How is the hemachromatosis process?

You may be required to have a saliva test and blood test. For the saliva test, the medic will gently rub or scrape the inside of your cheek for a cell sample. For a blood test, your doctor will take a blood sample in your arm or crease of your elbow. In certain cases, the doctor will tighten the elastic belt on your upper arm to make the blood flow heavier. That way, collecting blood samples will be easier. An injection will be inserted into the arm to suck blood, which will then be accommodated by a small tube at the other end of the injection. When the blood sample is sufficient, the doctor will remove an injection from your arm and cover the injection area with a bandage to stop the bleeding.

What should I do after undergoing hemachromatosis?

You will be scheduled to receive and discuss the results. Your doctor will then explain what the results found during the test mean. Follow the doctor's rules.

Explanation of the Test Results

What do my test results mean?

There are several possible results, such as:

Normal result

If it is detected that you do not have a single defective HFE gene mutation, you will not develop genetic hemochromatosis and will not pass it on to future generations.

Result as a carrier

If it is detected that you have 1 defective HFE gene mutation and 1 normal HFE gene mutation, you are classified as carrier, or carriers of the HFE genetic disorder. A carrier usually show no signs of hemochromatosis, but have a 50% chance of passing the gene on to your offspring. If two people carrier having children, the child has a 25% chance of inheriting 2 defective HFE genes and is at risk of developing hemochromatosis.

The results as inherited

If your test results show the presence of 2 defective HFE mutation genes, then you are inherited positive and have a high risk of absorbing too much iron and possibly developing hemochromatosis. Types of symptoms and signs of disease vary from person to person. Some people may not show symptoms of hemochromatosis, while others experience symptoms that are quite severe. Individuals who are affected have a 100% chance of passing the disease on to their offspring.

A positive test result for the defective HFE gene indicates that other family members may be at risk of developing hemochromatosis and should be examined further. Individuals with 1 or more defective HFE gene pairs should consider testing their partners before deciding to have a child to determine the risk for the child developing hemochromatosis.