Tired woman with hand on face and holding coffee cup experiencing symptoms of hemochromatosis

What Causes Hemochromatosis?

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.

Table of contents

Iron is an important mineral that the body needs for its blood. It makes up most of the protein hemoglobin, which is the substance in red blood cells that transports oxygen. Adequate iron consumption and iron absorption are necessary for healthy blood, but what happens when you absorb too much iron into your system? Learn more about hemochromatosis below.

What is hemochromatosis?

Hemochromatosis is characterized by excess absorption of iron from the foods that you eat. While it comes in a couple of different forms, hereditary hemochromatosis is the most common. Normally, any iron that the body doesn’t immediately use gets stored in the liver, pancreas, heart, and other organs. With hemochromatosis, it can be increasingly difficult for the body to break iron down and to use it up as fast as it gets absorbed, resulting in increased iron build up in the system [1].

Symptoms of hemochromatosis

Some people with milder forms of hemochromatosis may not experience any early symptoms, or they may have early symptoms that are mistaken for less serious health problems. Some common signs and symptoms that do appear include:

  • Fatigue
  • Weakness
  • Skin that appears gray or bronze in color
  • Joint pain
  • Abdominal pain or cramping
  • Heart or liver failure
  • Impotence and loss of sex drive
  • Memory problems or brain fog [1]

While hereditary hemochromatosis is a lifelong disorder, symptoms that do appear may not be obvious until later in life. In women, this may occur in menopause, when women no longer lose blood via menstruation [1].

The causes of hemochromatosis

Hereditary hemochromatosis is caused by an HFE mutation in the gene that controls the amount of iron that you absorb from food. Normally, the liver tissue secretes a hormone called “hepcidin” that regulates iron usage and absorption and determines how excess iron is stored. With hereditary hemochromatosis, the HFE gene mutation disrupts the function of hepcidin, preventing it from properly regulating iron usage. The result is excess absorption of iron from food [1].

Iron still gets stored in the organs, but over time, hemochromatosis can result in toxic levels of iron getting stored in organs. This can result in severe organ damage and disorders that include cirrhosis, heart failure, and diabetes [1].

Some people without the hereditary form of hemochromatosis may develop what’s known as “secondary hemochromatosis.” Secondary hemochromatosis comes as a side effect of certain medical treatments or medical conditions that contribute to an iron overload, including:

  • Blood transfusion
  • Treatment for anemia
  • Iron supplements or injections
  • Extended use of kidney dialysis
  • Treatment for liver disease [2]

Treatments for hemochromatosis

There are currently no cures for hemochromatosis, but treatments and diet changes can help to reduce the severity of it. Diet changes may include avoiding iron supplements and foods that are high in iron and vitamin C (vitamin C helps your body absorb iron) [2].

Your healthcare provider may also recommend blood removal, medically known as a “therapeutic phlebotomy.” This blood transfusion must be repeated regularly. The exact amount of blood and how often you must get the procedure done depends on the severity of the hemochromatosis, age, and general health. Once your iron levels have gone down to normal, you can get your blood removed less often [3].

Even with treatment, it’s important to monitor your iron levels to watch for any sudden spikes that may contribute to severe health problems. Regular blood testing (through your healthcare provider, for example) can help you stay informed of your iron levels.

How to Test for Hemochromatosis: A Complete Guide

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

Will taking a multivitamin give me energy?

References

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

2. Hemochromatosis (Iron Overload). Cleveland Clinic. URL. Accessed June 27, 2022.

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

Everlywell makes lab testing easy and convenient with at-home collection and digital results in days. Learn More