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Medical Video: En qué consiste la hemocromatosis y cómo se diagnostica
Definition
What is hemacromatosis?
The hemochromatosis Gene Test (HFE test) is a blood test that is performed to examine genetic hemochromatosis, a hereditary 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 the early stages, hemochromatosis causes rheumatic pain in the joints and abdominal pain, weakness, tiredness, and weight loss. This condition also results in liver injury (cirrhosis), darkening of the skin, diabetes, infertility, heart failure, arrythmia, and arthritis. In some people, these signs are not seen at the initial stage.
Hemochromatosis is commonly detected in men aged 40 - 60 years. In women, the signs of hemochromatosis will not be detected until menopause because, until then, it is perfectly normal for women to lose blood and iron in large numbers during menstruation.
When should I undergo hemacromatosis?
The HFE test is done to find out if a person has a high risk of contracting hemochromatosis. The HFE test is especially recommended for people who have families (parents, siblings, siblings) with a medical history of this disease. This check is done if it is confirmed that you have iron levels that exceed the normal limit in your blood. The HFI test will track and identify mutations in the HFE gene. This mutation is called C282Y and H63D.
Prevention & warning
What should I know before undergoing hemacromatosis?
The HFE test cannot predict whether you will get hemochromatosis. Although this test can track the most common HFE gene mutations, there may be other mutations not found during the test. You may have an HFE mutation and not contract the disease, or you experience symptoms but the test results do not find any mutations. The HFE test can identify the causes of high levels of iron in the body and eliminate the need for other advanced 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 hemacromatosis?
There is no special preparation ahead of the HFE test. Consult with your doctor about any concerns you have about the HFE test, the risks, how the test procedure, or the results that might be obtained afterwards.
What is the process of hemacromatosis?
You may be required to undergo a saliva test and a blood test. For a saliva test, the medical officer will slowly rub or scrape the inside of your cheek to get a cell sample. For a blood test, the doctor will take a blood sample on your arm or your elbow fold. In certain cases, the doctor will tighten the elastic belt on your upper arm to make the blood flow more profusely. That way, collecting blood samples will be easier. The 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 enough, the doctor will remove the injection from your arm and close the injection area with a bandage to stop the bleeding.
What should I do after undergoing hemacromatosis?
You will be scheduled to receive and discuss the results. Your doctor will then explain the meaning of the results found during the test. Follow the doctor's rules.
Explanation of Test Results
What do the test results mean?
There are several possible results, such as:
Normal results
If it is detected that you do not have a single defective HFE gene mutation, you will not contract genetic hemochromatosis and will not reduce it to the next generation.
Results 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 the carrier of the genetic disorder HFE. A the carrier usually does not show signs of hemochromatosis, but has a 50% chance of lowering the gene in your offspring. If two people the carrier having children, the child has a 25% chance of inheriting 2 HFE defective genes and the risk of contracting hemochromatosis.
Results as inherited
If your test results show that there are 2 defective HFE mutation genes, then you are positive as an heir and have a high risk of absorbing too much iron and possibly contracting hemochromatosis. The types of symptoms and signs of disease vary in each person. Some people may not show symptoms of hemochromatosis, while others experience quite severe symptoms. Affected individuals have a 100% chance to pass on this disease to their offspring.
Positive test results for the defective HFE gene indicate that other family members can be at risk of contracting hemochromatosis and should be examined further. Individuals with 1 or more pairs of defective HFE genes should consider testing their partners before deciding to have children to ensure a risk for children who have hemochromatosis.
Hello Health Group does not provide medical advice, diagnosis or treatment.
