Hemochromatosis is a disorder that causes your body to absorb too much iron. Blood tests that measure iron levels in your blood and liver can help diagnose the condition.
The medical disorder hemochromatosis causes a buildup of excess iron in your body. The excess iron is typically stored in your liver, heart, pancreas, and other organs.
Excess iron in your body and organs can lead to serious health conditions, including diabetes, heart conditions, and liver disease.
Blood tests that measure your iron levels are the primary way doctors and healthcare professionals confirm a diagnosis of hemochromatosis.
Learn about the blood tests used to diagnose hemochromatosis and how it’s treated.
Doctors use two primary blood tests to measure iron levels in your body and diagnose hemochromatosis: serum transferrin saturation and serum ferritin. Often, the results of these blood tests are the first sign that someone has hemochromatosis.
But it’s important to note that these two tests aren’t used alone when evaluating or diagnosing blood count disorders.
Serum transferrin saturation measures how much iron is bound to a protein called transferrin that carries iron in your blood. Any value above 45% is classified as too high.
Serum ferritin measures how much iron is stored in your liver. Normal iron levels can vary by age, sex, and other individual factors.
You might have these tests more than once so that a doctor can assess your iron levels at different times of day. This can improve test accuracy.
Having a high result on either or both tests doesn’t always mean you have hemochromatosis. Other conditions can cause similar results, such as liver disease.
| Serum transferrin saturation normal value | Serum transferrin saturation high value |
|---|---|
| below 45% | above 45% |
Does high hemoglobin mean hemochromatosis?
Your body needs iron to make hemoglobin, but having high a hemoglobin count doesn’t mean you have hemochromatosis.
There are several conditions that can raise your hemoglobin levels. These include diseases that affect your bone marrow and your heart. It also includes factors that make it hard for your body to get enough blood oxygen, such as smoking or living at a high altitude.
Blood tests alone aren’t enough to diagnose hemochromatosis. If your serum transferrin saturation and serum ferritin levels are high, a doctor will likely order a range of other tests. Common tests include:
- Gene testing: This is done to test for abnormalities or mutations in your hemochromatosis (HFE) gene. (Hemochromatosis is genetic and is linked to changes on your HFE gene.)
- Liver function tests: Liver function tests are blood tests that indicate how well your liver is working.
- MRI: MRI can provide detailed images of your liver that can help doctors assess iron overload.
- Liver biopsy: A liver biopsy checks for the presence of iron within your liver.
Hemochromatosis doesn’t always cause symptoms at first. As your iron levels build up, symptoms can develop. Often, people with hemochromatosis begin experiencing symptoms when they’re between 30 and 40 years old. These might include:
- fatigue
- weakness
- joint pain
- hand pain
- abdominal pain over your liver
- loss of sexual desire
- erectile dysfunction
- change to skin color, causing a gold, bronze, gray, or metallic appearance
- loss of body hair
- early menopause
- unintentional weight loss
Over time, hemochromatosis can also lead to complications. These can include
The primary treatment for hemochromatosis is called
During treatment, a medical technician will remove a small amount of blood from a vein in your arm, usually around 500 mL. Your body will replenish the blood, and the iron you lose, so you’ll need repeated treatments to reach healthy iron levels.
The number of treatments you’ll need will depend on factors such as:
- the level of iron in your blood
- your weight
- your height
- your overall health
Typically, you’ll have an initial round of phlebotomy treatments that will be repeated several times a year until your iron levels are healthy.
Iron-removing medications are also options for people who can’t safely have phlebotomy treatments.
Along with your phlebotomy treatments, a doctor might recommend that you take some home lifestyle steps. Typically, this includes avoiding supplements that can increase iron absorption, such as:
- vitamin C
- multivitamins
- iron supplements
You’ll also want to avoid substances linked to liver damage, such as alcohol. A doctor can give you advice on what to avoid that’s specific to your hemochromatosis.
Hemochromatosis is a disorder that causes your body to store too much iron. Over time, this can lead to organ damage and serious complications.
Blood tests are one of the key ways doctors can confirm a diagnosis of hemochromatosis. Additional testing might include MRI, genetic testing, and a liver biopsy.