The hemochromatosis gene, known as HFE, helps regulate the body’s absorption of iron. Some people can inherit a mutation to this gene that causes their bodies to absorb too much iron. Most cases occur due to C282Y and H63D mutations. When this happens, a person can develop hemochromatosis.

A person may develop symptoms related to too much iron in the body, such as joint pain, fatigue, and a loss of libido. Over time, they may also develop serious complications, such as liver damage.

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) states that rare forms of hemochromatosis, called non-HFE hemochromatosis, occur due to mutations in the HAMP and HJV genes. Healthcare professionals may also refer to the HJV gene as the HFE2 gene.

If these mutations occur, a person will develop complications and symptoms at a younger age. They may also develop complications by the time they are teenagers.

This article reviews what the hemochromatosis gene is, symptoms associated with hemochromatosis, and more on how a person inherits the gene.

A genetic test to look for the hemochromatosis gene.Share on Pinterest Enterprise

Hereditary hemochromatosis is a genetic disease that alters how the body regulates iron absorption. The condition causes a person’s iron levels to increase to dangerous levels.

According to the National Human Genome Research Institute, in the case of hereditary hemochromatosis, a person is likely to develop the condition if they inherit two copies of the mutated hemochromatosis gene, or HFE gene. However, it is important to note that not everyone who inherits two copies will experience symptoms.

A person who inherits one copy of the mutated gene will either not develop signs and symptoms or experience mild symptoms.

When functioning normally, this gene helps regulate and prevent the excessive absorption of iron. When too much iron circulates in the body, it can cause damage to tissues and organs.

Some affected areas include:

  • liver
  • joints
  • heart
  • endocrine glands
  • pancreas

Hereditary hemochromatosis affects approximately 1 million people in the United States.

When too much iron consistently enters the body, a person may start to experience symptoms related to the condition.

The NIDDK states that common symptoms of too much iron include:

  • joint pain
  • abdominal pain around the liver
  • loss of interest in sex
  • erectile dysfunction
  • a general feeling of being tired or weak

People may also experience a darkening of their skin color, which initially appears on sun-exposed areas such as their face. This is often known as “bronzing”.

Not everyone will develop symptoms. Additionally, symptoms usually occur after a person reaches 40 years old, and females may develop symptoms 10 years later compared to males.

Without treatment, a person may develop complications that could cause additional symptoms. Some potential complications include:

Both parents can carry the hereditary hemochromatosis gene.

According to the National Human Genome Research Institute, a child that inherits two copies of the mutated gene has a high risk of developing hemochromatosis. However, having two copies does not guarantee a child will develop the condition.

When a person inherits only one copy of the gene, they may not develop any symptoms of the condition at all, or they may only develop slight symptoms. In these cases, they may become “silent carriers” of the condition.

In other words, if they have a child with another silent carrier, their child has a chance of inheriting two mutated genes and a higher chance of developing hemochromatosis.

Parents pass the hemochromatosis gene to their children. A child inherits two copies of the gene, one from each parent.

The affected genes may be recessive or dominant, which affects how many copies of the genes a person needs to develop the condition.

According to the Genetic and Rare Diseases Information Center (GARD), a child of two recessive gene carriers has a:

  • 25% chance of developing hemochromatosis
  • 50% of becoming a carrier
  • 25% chance that they will have two working copies of the genes

On the other hand, a child with a dominant gene change has a:

  • 50% chance of developing hemochromatosis
  • 50% chance of being unaffected

Several potential mutations can occur within the genes that can cause hereditary hemochromatosis to develop.

The location of the mutation determines the type of hereditary hemochromatosis a person may develop. Healthcare professionals classify the type of hereditary hemochromatosis based on the age of onset, which genes are affected, and how it is inherited.

A person can inherit an autosomal recessive condition if they inherit one copy of a mutated gene from each parent.

Individuals can develop an autosomal dominant condition if they inherit a single copy of the mutated gene from one parent. A person has a 50% chance of inheriting the mutated gene and developing the condition.

GARD states that the mutations can occur on the following genes:

Hemochromatosis typeAffected genesAge of symptom onsetHow it is inherited
Type 1HFE40–60 years oldAutosomal recessive
Type 2HFE2 or HAMPBegins during childhoodAutosomal recessive
Type 3TFR2Before 30 years oldAutosomal recessive
Type 4SLC40A1Any time between childhood and adulthoodAutosomal dominant

Type 5 hereditary hemochromatosis occurs due to changes with the FTH1 gene. Only one family in Japan has reported the condition.

According to a 2015 article, healthcare professionals perform gene testing for hereditary hemochromatosis if they suspect a person has an iron overload alongside high levels of ferritin, which is a blood protein that stores iron, and transferrin, which is a protein in that transports iron the blood. High levels can indicate that a person has hemochromatosis.

Gene testing can confirm a hereditary hemochromatosis diagnosis.

A person with hemochromatosis will need regular testing as part of their treatment. Testing can help check iron levels and look for complications related to too much iron.

A doctor may recommend some common tests, such as a complete blood count to check for iron and protein levels, a liver biopsy to check for liver damage, and an MRI.

A person with hemochromatosis has a good chance of living a normal, healthy lifespan provided they seek treatment for their condition.

Without diagnosis and treatment, a person has a higher chance of developing serious health complications, such as liver damage or heart disease, that can affect a person’s overall outlook and life expectancy.

The most common treatment for reducing iron in the blood is via phlebotomy, or drawing blood. In addition, a doctor may recommend dietary changes, iron chelation therapy, and treating any complications of the disease.

At first, a person will likely need regular blood draws. Once their blood iron levels reach a normal level, the number of blood draws will vary based on how well their ferritin and transferrin saturation levels stay within the normal range.

Regular treatment can help prevent complications and reduce their impact on a person’s life if they have already begun. As a result, a person should seek treatment even if complications have already started.

A person who has a sibling living with hereditary hemochromatosis should speak with a doctor about undergoing genetic testing due to an increased risk of also having the mutated genes.

Additionally, a person with a parent who either has the condition or is a known carrier should speak with a doctor about genetic testing.

Finally, a person who knows they may have the mutated genes should speak with a doctor if they develop any symptoms that could indicate a problem with iron absorption.

Hereditary hemochromatosis can occur when a person inherits one or more copies of a mutated HFE gene. Hemochromatosis results in the body absorbing too much iron, which can lead to complications, such as cirrhosis.

A person should seek treatment for the condition as soon as possible to help prevent complications. Treatment typically involves blood draws to help reduce iron levels.

A person should also contact a doctor if they experience symptoms of iron absorption issues and have a known family member who either is living with the condition or may be a carrier.