Hereditary hemochromatosis is a genetic condition that causes your body to absorb too much iron from food. This extra iron builds up in your organs and can damage them over time. It’s one of the most common genetic disorders in people of European ancestry.

Your body normally controls how much iron it absorbs, but with hereditary hemochromatosis, this control system doesn’t work properly. The result is iron overload that can affect your liver, heart, pancreas, and other organs (1).

What Causes Hereditary Hemochromatosis?

Hereditary hemochromatosis happens when you inherit certain gene mutations from your parents. These mutations affect how your body regulates iron absorption.

The HFE Gene

The most common type of hereditary hemochromatosis is caused by mutations in the HFE gene. The two main mutations are called C282Y and H63D (2).

You need to inherit two copies of the C282Y mutation (one from each parent) to have the highest risk of developing iron overload. This is called being homozygous for C282Y. People with one C282Y mutation and one H63D mutation (compound heterozygous) can also develop iron overload, though it’s usually less severe (3).

Other Genetic Causes

While HFE mutations are the most common, hereditary hemochromatosis can also be caused by mutations in other genes:

  • HJV gene: Causes juvenile hemochromatosis (type 2A), which starts earlier and progresses faster than HFE-related hemochromatosis (4)
  • TFR2 gene: Causes type 3 hemochromatosis (5)
  • HAMP gene: Affects hepcidin production directly
  • SLC40A1 gene: Affects ferroportin, the protein that releases iron from cells (6)

Who Gets Hereditary Hemochromatosis?

Hereditary hemochromatosis is most common in people of Northern European descent. Research shows that genetic variants for hemochromatosis have been found in human fossils over 4000 years old in Northern Ireland, demonstrating its long history in European populations (7).

The condition affects both men and women, but men typically develop symptoms earlier. Women often don’t show symptoms until after menopause because they lose iron through menstruation, which helps prevent iron buildup (3).

Symptoms of Hereditary Hemochromatosis

Many people with hereditary hemochromatosis don’t have symptoms in the early stages. When symptoms do appear, they’re often vague and can be mistaken for other conditions.

Early Symptoms

The most common early symptoms include:

  • Chronic fatigue and weakness
  • Joint pain, especially in the hands
  • Abdominal pain
  • Loss of sex drive
  • Unexplained weight loss

These symptoms happen because excess iron starts affecting your organs and tissues (8).

Advanced Symptoms

If iron overload continues untreated, it can cause serious complications:

  • Liver problems: Including cirrhosis and liver cancer (7)
  • Heart problems: Including abnormal heart rhythms and heart failure (9)
  • Diabetes: Due to pancreatic damage
  • Arthritis: Especially in the hands and knees
  • Skin color changes: A bronze or gray tint to the skin
  • Sexual problems: Including erectile dysfunction and early menopause

How Iron Overload Damages Your Body

Iron is essential for many body functions, but too much iron becomes toxic. Here’s how excess iron causes damage:

Oxidative Stress

When iron accumulates in your organs, it creates harmful molecules called reactive oxygen species. These molecules damage cells through a process called oxidative stress. This is particularly harmful to your liver, heart, and pancreas (10).

Effects on Different Organs

Different organs are affected by iron overload in specific ways:

  • Liver: As the main storage site for iron, your liver is often the first organ affected. Iron buildup can lead to inflammation, scarring, and eventually cirrhosis (11)
  • Heart: Iron deposits in heart muscle can interfere with its ability to pump blood effectively
  • Pancreas: Iron damage to insulin-producing cells leads to diabetes
  • Joints: Iron deposits cause inflammation and arthritis
  • Pituitary gland: Can affect hormone production
Fact
Iron overload can also affect your bones. Research shows that excess iron decreases bone density and increases fracture risk by disrupting the normal function of bone-building and bone-breaking cells.

Diagnosing Hereditary Hemochromatosis

Diagnosis typically involves blood tests followed by genetic testing if iron overload is suspected.

Blood Tests

The main blood tests used to check for iron overload include:

  • Serum ferritin: Measures stored iron in your body
  • Transferrin saturation: Shows how much iron is bound to the protein that carries it in your blood

If these tests show elevated iron levels, your doctor may recommend genetic testing. In one study, people with certain HFE mutations had transferrin saturation levels averaging 62%, much higher than normal (3).

Genetic Testing

Genetic testing can identify specific mutations causing hereditary hemochromatosis. This usually involves a simple blood test that checks for mutations in the HFE gene and other related genes.

Liver Assessment

If you’re diagnosed with hereditary hemochromatosis, your doctor may assess liver damage using:

  • MRI: Can measure iron concentration in the liver non-invasively
  • Liver biopsy: Directly examines liver tissue (less commonly used now)
  • Blood tests: To check liver function

Treatment for Hereditary Hemochromatosis

The good news is that hereditary hemochromatosis is very treatable when caught early. The main treatment is simple and effective.

Phlebotomy (Blood Removal)

The primary treatment for hereditary hemochromatosis is regular blood removal, called phlebotomy. It’s similar to donating blood. Each pint of blood removed contains about 250 mg of iron.

Treatment typically happens in two phases:

  • Initial phase: Weekly or twice-weekly blood removal until iron levels normalize
  • Maintenance phase: Blood removal every 2-4 months to keep iron levels normal

Early phlebotomy treatment can reverse liver damage and prevent complications. In one case study, prompt and regular phlebotomy reversed liver injury in a young patient with juvenile hemochromatosis (4).

Iron Chelation Therapy

For people who can’t have regular phlebotomy (such as those with anemia), medications called iron chelators can help remove excess iron. These medications bind to iron and help your body eliminate it.

Dietary Changes

While diet alone can’t treat hereditary hemochromatosis, certain dietary modifications can help:

  • Limit foods high in iron (like red meat and iron-fortified foods)
  • Avoid vitamin C supplements with meals (vitamin C increases iron absorption)
  • Limit alcohol (can worsen liver damage)
  • Avoid raw shellfish (increased infection risk with iron overload)
Tip
Drinking tea or coffee with meals can help reduce iron absorption because these beverages contain compounds that bind to iron.

Living with Hereditary Hemochromatosis

With proper treatment, most people with hereditary hemochromatosis can live normal, healthy lives. The key is early diagnosis and consistent treatment.

Regular Monitoring

You’ll need regular blood tests to monitor your iron levels. Your doctor will check ferritin and transferrin saturation to ensure treatment is working effectively.

Family Screening

Because hereditary hemochromatosis is genetic, your family members should be tested. First-degree relatives (parents, siblings, children) have the highest risk of also having the condition.

In one study, genetic testing of family members identified additional cases of hereditary hemochromatosis, allowing for early treatment before symptoms developed (6).

Pregnancy Considerations

Women with hereditary hemochromatosis often do well during pregnancy because the growing baby uses extra iron. However, iron levels should be monitored carefully, especially after delivery when iron requirements decrease.

Complications to Watch For

Even with treatment, it’s important to watch for potential complications of hereditary hemochromatosis.

Liver Disease

Regular monitoring of liver function is crucial. Some people may develop cirrhosis before diagnosis, which increases the risk of liver cancer. Your doctor may recommend regular imaging to screen for liver cancer if you have cirrhosis.

Heart Problems

Iron deposits in the heart can cause various problems. Regular heart checkups, including ECGs and echocardiograms, may be recommended if you’ve had significant iron overload.

Joint Problems

Arthritis from hemochromatosis doesn’t always improve with iron removal. You may need additional treatment for joint pain and stiffness.

Special Situations

Certain situations require special consideration when managing hereditary hemochromatosis.

Other Health Conditions

Some conditions can complicate hemochromatosis management:

  • Viral hepatitis: Can accelerate liver damage
  • Alcohol use disorder: Worsens iron accumulation and liver damage
  • Porphyria cutanea tarda: Often occurs with hemochromatosis (12)

Secondary Causes of Iron Overload

Not all iron overload is hereditary. Secondary causes include:

  • Multiple blood transfusions
  • Excessive iron supplementation
  • Certain types of anemia
  • Chronic liver disease

It’s important to distinguish between hereditary and secondary causes because treatment approaches may differ.

Research and Future Treatments

Scientists continue to study hereditary hemochromatosis to develop better treatments.

New Therapeutic Approaches

Researchers are developing new ways to treat iron overload by targeting hepcidin, the hormone that controls iron absorption. These treatments aim to increase hepcidin levels to reduce iron absorption naturally (1).

Genetic Research

Studies continue to discover new genetic variants associated with iron metabolism disorders. Research in diverse populations helps identify population-specific variants and improves our understanding of hereditary hemochromatosis across different ethnic groups (13).

When to See a Doctor

You should consider seeing a doctor about hereditary hemochromatosis if you have:

  • Unexplained chronic fatigue
  • Joint pain, especially in your hands
  • Abnormal liver function tests
  • A family history of hemochromatosis
  • Early heart disease or diabetes without obvious cause

Early diagnosis is crucial because treatment can prevent serious complications.

Warning
Don’t take iron supplements unless your doctor specifically recommends them. If you have hereditary hemochromatosis, iron supplements can be dangerous and worsen iron overload.

The Bottom Line

Hereditary hemochromatosis is a common genetic condition that causes iron overload. While it can lead to serious complications if untreated, it’s also one of the most treatable genetic disorders. Regular blood removal through phlebotomy effectively reduces iron levels and prevents organ damage.

The key to managing hereditary hemochromatosis is early diagnosis and consistent treatment. If you have symptoms of iron overload or a family history of the condition, talk to your doctor about testing. With proper management, most people with hereditary hemochromatosis can expect to live normal, healthy lives.

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