Hemochromatosis – Symptoms and Causes
Understanding Hemochromatosis
Hemochromatosis is a health condition where the body absorbs too much iron from food. This extra iron doesn’t leave the body naturally and builds up in organs like the liver, heart, and pancreas.
When left untreated, this iron buildup can cause serious health problems including liver damage, heart disease, and diabetes.
The most common type of hemochromatosis is genetic, passed down through families. However, having the genes doesn’t always mean someone will get sick. Most people with these genes don’t develop severe health issues.
Symptoms typically appear in middle age. The main treatment involves a simple procedure called phlebotomy, where blood is regularly drawn from the body.
Since red blood cells contain most of the body’s iron, removing blood helps lower iron levels and manage the condition.
Signs and Symptoms
People with hemochromatosis may experience various symptoms as the condition progresses. Many individuals might notice:
- Joint pain
- Abdominal discomfort
- Extreme tiredness
- General weakness
- Diabetes
- Reduced sexual desire
- Sexual dysfunction in men
- Heart problems
- Liver issues
- Gray or bronze skin coloration
- Cognitive difficulties
Some people with this condition never develop noticeable symptoms.
When Signs Usually Begin
Hemochromatosis is typically present from birth in its most common form. However, symptoms often don’t appear until middle age. Men usually experience symptoms around age 40, while women tend to develop them after age 60.
Women generally show symptoms later because they regularly lose iron through menstruation and pregnancy until menopause begins.
When to Contact a Healthcare Provider
If you notice any hemochromatosis symptoms, make an appointment with your doctor. Having a family history of this condition is important to share with healthcare providers.
If someone in your immediate family has hemochromatosis, ask about genetic testing options. These tests can determine if you carry the gene that increases your risk for developing this iron storage disorder.
What Causes Hemochromatosis
Hemochromatosis happens when too much iron builds up in the body. This usually occurs because of changes in genes that control how much iron the body absorbs from food.
The most common type is hereditary hemochromatosis, which passes from parents to children.
Gene Changes That Lead to Iron Overload
The HFE gene plays a key role in most cases of hereditary hemochromatosis. Everyone gets one HFE gene from each parent. This gene has two common mutations called C282Y and H63D. Genetic tests can show if you have these changes.
When you inherit two altered HFE genes (one from each parent), you may develop hemochromatosis. However, not everyone with two changed genes will have problems with iron buildup.
If you have only one altered gene, you probably won’t develop the disease, but you can pass this gene to your children.
The risk of developing hemochromatosis works like this:
Gene Status | Risk Level | Can Pass to Children |
---|---|---|
Two altered genes | Higher risk | Yes |
One altered gene | Low risk | Yes (carrier) |
No altered genes | No risk | No |
How Excess Iron Damages Your Body
Iron helps your body make blood and perform other important functions. But too much iron can be harmful.
Your liver makes a hormone called hepcidin that controls:
- How iron gets used by your body
- How iron gets absorbed
- Where extra iron gets stored
In hemochromatosis, this system doesn’t work properly. Your body keeps absorbing iron even when it has enough.
The extra iron doesn’t just float around in your blood. It gets stored in your organs, especially the liver. Over many years, this stored iron can damage these organs. This damage may lead to:
- Liver Problems: Including cirrhosis (scarring).
- Diabetes: When iron damages the pancreas.
- Heart Failure: From iron buildup in heart muscle.
Not everyone with gene changes will have serious iron buildup or organ damage.
Other types of hemochromatosis include:
- Juvenile Hemochromatosis: Similar to adult hereditary hemochromatosis, but starts earlier (ages 15-30). This comes from changes in the hemojuvelin or hepcidin genes.
- Neonatal Hemochromatosis: A serious condition where iron builds up quickly in a baby’s liver before birth. This likely results from the mother’s immune system attacking the baby’s liver.
- Secondary Hemochromatosis: Not inherited but caused by other conditions. People who need many blood transfusions for anemia or liver disease may develop this type of iron overload.
Risk Factors
Several factors can increase your chances of developing hemochromatosis:
Genetic Factors
- Having two copies of the altered HFE gene is the biggest risk factor for hereditary hemochromatosis
- A family history with parents or siblings who have the condition increases your risk
Demographic Factors
- Northern European ancestry makes you more susceptible than other ethnic backgrounds
- The condition is less common in Black, Hispanic, and Asian populations
Sex and Age
- Men typically develop symptoms earlier than women
- Women have some protection before menopause due to iron loss through menstruation and pregnancy
- Women’s risk increases after menopause or hysterectomy when this natural iron removal stops
These factors help doctors identify who might need testing or closer monitoring for iron overload.
Complications
When hemochromatosis goes untreated, it can cause several serious health problems. The extra iron builds up in joints and organs, causing damage over time.
The liver often suffers significant harm. Iron buildup can lead to cirrhosis, which is permanent scarring of liver tissue. This scarring raises the risk of developing liver cancer and other dangerous conditions.
Pancreas damage is another concern. When iron accumulates in this organ, it can interfere with insulin production, potentially resulting in diabetes.
Heart health may decline as excess iron affects cardiac function. This can lead to congestive heart failure, which reduces pumping ability, and irregular heartbeats called arrhythmias.
Both men and women may experience reproductive issues. Men might develop erectile dysfunction or decreased sex drive, while women could experience missed menstrual periods.
Skin changes can also occur. As iron deposits in skin cells, a person’s complexion might take on a bronze or grayish tone. This change is often noticeable on exposed areas of the body.