Hemochromatosis is a genetic disorder that causes your body to absorb too much iron from food. When excess iron builds up in your organs over time, it can cause serious health problems.
This common condition affects millions of people worldwide. But with early detection and proper treatment, you can prevent complications and live a healthy life.
Table of Contents
What Is Hemochromatosis?
Hemochromatosis is a condition where your body absorbs more iron than it needs. Unlike a healthy person who absorbs about 1-2 mg of iron daily, people with hemochromatosis can absorb 3-5 mg per day (1).
The problem is that your body has no natural way to get rid of excess iron. Over many years, this iron builds up in your organs like the liver, heart, pancreas, and joints.
Types of Hemochromatosis
There are several types of hemochromatosis, but the most common type is called HFE-related hemochromatosis or hereditary hemochromatosis.
HFE-Related Hemochromatosis
This is the most common form in people of European descent. It’s caused by mutations in the HFE gene. The most important mutation is called C282Y.
People who inherit two copies of the C282Y mutation (one from each parent) have the highest risk of developing iron overload. Research shows that about 1 in 10 men with this genetic makeup will develop severe liver disease during their lifetime if not treated early (2).
Other Types
Less common types include ferroportin disease, which affects how iron moves out of cells (3).
How Common Is Hemochromatosis?
Hemochromatosis is more common than many people realize. The C282Y mutation is most frequent in Celtic populations in Ireland, the UK, and France, but it’s also found in Scandinavia and other parts of Europe (4).
However, it’s important to know that having the gene mutation doesn’t always mean you’ll develop symptoms. Many people with the genetic changes never develop serious problems (5).
Symptoms and Complications
Hemochromatosis symptoms often develop slowly over many years. Early on, you might not notice any problems at all.
Early Symptoms
Common early symptoms include:
- Fatigue and weakness
- Joint pain, especially in your hands and knees
- Stomach pain
- Loss of interest in sex
- Memory problems
Serious Complications
If left untreated, iron overload can lead to serious complications affecting multiple organs (6).
Liver Problems
The liver is often the first organ affected. Iron buildup can cause liver damage, cirrhosis, and even liver cancer. A large analysis found that people with the C282Y gene mutation have nearly 4 times higher risk of liver disease overall, and 11 times higher risk of liver cancer specifically (7).
Heart Problems
Iron deposits in the heart muscle can cause heart failure and irregular heartbeats. Studies show that even moderately high iron stores can affect heart function by prolonging the time it takes for the heart to reset between beats (8).
Diabetes
Iron buildup in the pancreas can damage the cells that make insulin, leading to diabetes. This is why hemochromatosis was once called “bronze diabetes” because of the combination of skin color changes and diabetes.
Joint Problems
Joint damage is common in hemochromatosis. Research shows that people with hereditary hemochromatosis have more than 3 times higher risk of needing joint replacement surgery compared to those without the condition (9).
Other Complications
Studies have also found connections between hemochromatosis and autoimmune conditions. In one study of 235 patients with hemochromatosis, about 15% had autoimmune conditions, with thyroid problems being the most common (10).
Diagnosis
Diagnosing hemochromatosis involves blood tests and sometimes genetic testing.
Blood Tests
The main blood tests check your iron levels:
- Transferrin saturation: This measures how much iron is bound to the protein that carries iron in your blood. A level above 45% in women or 50% in men may suggest iron overload.
- Serum ferritin: This measures stored iron in your body. High levels can indicate iron overload.
Studies suggest that using transferrin saturation as a screening test can effectively identify people who need further testing (11).
Genetic Testing
Genetic testing can identify mutations in the HFE gene. This is especially useful for family members of people diagnosed with hemochromatosis.
Research shows that genetic testing is similarly accepted by patients as traditional blood testing, with 56% accepting genetic testing versus 58% for blood testing (12).
Treatment Options
The good news is that hemochromatosis is very treatable when caught early. The main goal is to remove excess iron from your body and prevent further buildup.
Phlebotomy (Blood Removal)
The standard treatment is phlebotomy, which is similar to donating blood. During this procedure, a pint of blood is removed from your body. Since red blood cells contain iron, removing blood reduces your iron levels.
Initially, you might need phlebotomy once or twice a week until your iron levels normalize. After that, you’ll need maintenance treatments every few months.
Erythrocytapheresis
A newer treatment option is erythrocytapheresis, which selectively removes red blood cells while returning other blood components to your body. Studies show this method can remove up to three times more red blood cells per session than regular phlebotomy (13).
For maintenance treatment, research shows that erythrocytapheresis requires fewer treatment sessions per year compared to phlebotomy (1.9 vs. 3.3 sessions), though it costs more (14).
Medications That Reduce Iron Absorption
Several medications can help reduce iron absorption from food, potentially reducing the need for frequent blood removal.
Proton Pump Inhibitors
Proton pump inhibitors (PPIs) are commonly used stomach acid reducers that can also reduce iron absorption. A randomized controlled trial found that taking pantoprazole (40 mg daily) significantly reduced the need for phlebotomy in people with hemochromatosis (15).
A systematic review and meta-analysis confirmed that PPIs can reduce the need for phlebotomy treatments, with patients requiring significantly fewer sessions annually (16).
Another study in people with hereditary anemia found that esomeprazole (40 mg twice daily) significantly reduced liver iron content compared to placebo (17).
Natural Iron Chelators
Several natural compounds can bind to iron and reduce its absorption:
Tea compounds: Studies show that drinking tea with meals can significantly reduce iron absorption. In one study, drinking Ilex paraguariensis (mate tea) with an iron-containing meal reduced iron absorption by 88% compared to water in people with hemochromatosis (18).
Silybin from milk thistle: Research found that taking 140 mg of silybin with a meal reduced iron absorption by about 42% in people with hemochromatosis (19).
Procyanidin supplements: However, one study found that 100 mg of procyanidin supplements did not significantly reduce iron absorption in people with hemochromatosis or dysmetabolic iron overload syndrome (20).
Experimental Treatments
New treatments are being developed, including BBI-001, a non-absorbed oral medication that binds dietary iron in the gut. Early studies suggest it may help normalize iron absorption in people who absorb too much iron (21).
Lifestyle and Dietary Considerations
While treatment is essential, certain lifestyle changes can help manage iron levels.
Diet Modifications
- Avoid iron supplements: Don’t take iron pills or multivitamins with iron unless specifically prescribed by your doctor
- Limit vitamin C with meals: Vitamin C increases iron absorption, so avoid taking vitamin C supplements with iron-rich meals
- Consider timing of iron-rich foods: You don’t need to completely avoid iron-rich foods, but timing and combinations matter
- Drink tea or coffee with meals: These beverages can help reduce iron absorption
Alcohol Considerations
Alcohol can increase iron absorption and worsen liver damage. If you have hemochromatosis, it’s especially important to limit alcohol consumption.
The Importance of Family Screening
Since hemochromatosis is genetic, family members should be tested. If you’re diagnosed with hemochromatosis, your parents, siblings, and children should have blood tests and possibly genetic testing.
Early detection in family members can prevent complications before they develop. Studies show that family screening is highly effective and widely recommended by medical organizations.
Monitoring and Follow-up
Once you’re diagnosed and treated, regular monitoring is important:
- Regular blood tests: Your doctor will check your iron levels regularly
- Liver monitoring: Since the liver is often affected, you may need periodic liver function tests
- Heart monitoring: If you have heart involvement, regular heart function tests may be needed
- Diabetes screening: Regular blood sugar monitoring is important
Prognosis and Long-term Outlook
With proper treatment, people with hemochromatosis can live normal, healthy lives. The key is early detection and consistent treatment.
A randomized controlled trial specifically studied people with moderately elevated iron levels and found that iron reduction treatment significantly improved fatigue scores, particularly cognitive fatigue (22).
However, some complications like joint damage may not be reversible, which is why early detection and treatment are so important.
Conclusion
Hemochromatosis is a common genetic condition that causes iron buildup in your organs. While it can lead to serious complications if untreated, it’s highly manageable with proper diagnosis and treatment.
The most important thing to remember is that early detection makes all the difference. If you have symptoms or a family history of hemochromatosis, getting tested could prevent serious health problems down the road. With regular blood removal treatments and possibly iron-reducing medications, people with hemochromatosis can maintain healthy iron levels and live normal lives.