Physician explaining how to test for hemochromatosis

How to Test for Hemochromatosis: A Complete Guide

Medically reviewed on June 27, 2022 by Jordan Stachel, M.S., RDN, CPT. To give you technically accurate, evidence-based information, content published on the Everlywell blog is reviewed by credentialed professionals with expertise in medical and bioscience fields.

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Iron plays an integral role in supporting healthy red blood cells, but an iron overload poses a serious health problem to a patient. High iron levels can be toxic, and while the body can regulate its own iron levels, certain disorders can lead to excess iron stored in the body.

Hemochromatosis is a condition that causes high iron levels to be stored in the body. Learn more about iron overload and how to test for hemochromatosis below.

What Is Hemochromatosis?

You may be wondering what causes hemochromatosis? Hemochromatosis is an iron overload condition characterized by excessive iron absorption into the body. This is largely an inherited disorder caused by a gene mutation. Normally, the body can self-regulate and prevent too much iron absorption, but the gene mutation that causes primary hemochromatosis prevents that. The result is excess levels of iron accumulation getting stored in the organs, particularly the liver, pancreas, and heart [1].

Hereditary hemochromatosis is a lifelong disorder, but some people with the hemochromatosis gene show no symptoms. Most people with the hereditary hemochromatosis gene won’t show noticeable symptoms until later in life, but many of these juvenile hemochromatosis symptoms can be easily mistaken for other common conditions. Some common symptoms of hemochromatosis include:

  • Joint pain
  • Abdominal pain
  • Memory fog
  • Extreme physical fatigue and weakness
  • Impotence and loss of sex drive
  • Skin turning bronze or gray [1]

In its most severe forms, hemochromatosis can lead to diabetes, heart problems, and organ damage or failure [1].

Testing for Hemochromatosis

Diagnosing hemochromatosis can be difficult with symptoms alone. Blood tests can show high iron accumulation levels, but this can be related to a host of other disorders or lifestyle factors. The two main tests used for identifying hemochromatosis in a patient are total iron-binding capacity (TIBC) and elevated ferritin [2].

Total iron-binding capacity measures your blood’s ability to transport iron and how much of that blood can bind itself to iron. TIBC tests are alike and often interchangeable with transferrin tests because they generally measure the same thing. Transferrin is produced in the liver. It is a protein that acts to regulate the amount of dietary iron absorbed into the blood. If you have primary or secondary hemochromatosis, TIBC levels will generally be low. However, TIBC levels may also be low if you have liver tissue problems like liver damage or liver cancer because transferrin is produced in liver tissue [3].

Ferritin is another protein in the blood that contains iron. A ferritin level test can help you understand how much iron is stored in the body. A test that shows elevated ferritin levels suggests that you might be storing too much iron in the body. That could mean primary or secondary hemochromatosis, but other conditions can cause similar results, including:

  • Inflammatory conditions like rheumatoid arthritis
  • Hyperthyroidism
  • Liver disease
  • Some forms of liver cancer [4]

There is no singular test for hemochromatosis. Often, combining an iron test with the above two tests can provide a comprehensive look at how the body uses dietary iron. If the HFE testing comes back with abnormal results, your healthcare provider may also order liver function tests and an MRI for further examination [2].

Hemochromatosis is a serious disorder, and without treatment, it can lead to ongoing issues like heart disease and organ damage. Testing and monitoring are essential to determining the right mode of treatment for hemochromatosis. If you think you have hemochromatosis or are exhibiting other issues that may be related to abnormal iron levels, you may want to seek medical attention.

What Causes Hemochromatosis?

What Does the Iron, TIBC, and Ferritin Panel test?

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1. Hemochromatosis, symptoms and causes. Mayo Clinic. URL. Accessed June 27, 2022.

2. Hemochromatosis, diagnosis and treatment. Mayo Clinic. URL. Accessed June 27, 2022.

3. Total iron-binding capacity (TIBC) and transferrin test. NHS. URL. Accessed June 27, 2022.

4. Ferritin test. Mayo Clinic. URL. Accessed June 27, 2022.

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