Hemochromatosis is a medical condition characterized by the build-up of iron in your body, which can cause organ damage if left untreated.
Hemochromatosis is a medical condition characterized by the build-up of iron in your body, which can cause organ damage if left untreated.
Normally, your body closely regulates iron absorption from your diet because it has no active mechanism to excrete excess iron. People with hemochromatosis absorb too much iron. While iron is an essential mineral with many important functions, extra iron can lead to iron overload and organ damage.
Hemochromatosis can develop as a primary condition linked to certain genes or a secondary condition caused by other diseases or repeated blood transfusions. In either case, early detection and treatment are key to preventing serious complications.
In the early stages of the condition, symptoms of hemochromatosis are often vague and nonspecific because iron levels tend to build up slowly. Many people may not have noticeable symptoms until organ damage becomes advanced. Some people may have symptoms for years before diagnosis, while others are diagnosed earlier through routine blood tests. Some of the most common symptoms of hemochromatosis include:
Fatigue or weakness (common with hemochromatosis)
Joint pain, often in your knees, hands, or thumbs
Abdominal pain or discomfort, especially in your right upper side over your liver
Loss of sex drive or sexual dysfunction, such as erectile dysfunction
Skin discoloration, where your skin may appear metallic, bronze, or grayish
Women with hemochromatosis might also experience menstrual irregularities.
People with advanced hemochromatosis may develop signs and symptoms related to organ damage.
People with liver failure and cirrhosis (including cirrhosis caused by hemochromatosis) may have:
A higher risk of a type of liver cancer called hepatocellular carcinoma
Jaundice, a yellowing of the skin and eyes
Ascites, or fluid retention around the belly
Cognitive changes like confusion, disorientation, or memory loss
Nausea and vomiting
Loss of appetite
Digestive symptoms
Weight loss
Dark urine
Easy bruising or bleeding
Itchy skin
Damage to the pancreas can cause diabetes. Symptoms may include:
Excessive thirst
Frequent urination
Fatigue
Unexplained weight loss
Blurry vision
Slow-healing sores
High blood sugar levels, identified with a blood test
Damage to your heart may cause congestive heart failure and associated symptoms such as:
Shortness of breath
Fatigue
Weakness
Swelling in your lower body
Rapid or irregular heartbeat (arrhythmia)
Hemochromatosis can be primary or secondary. Primary hemochromatosis is caused by certain genes inherited from your parents.
Other medical conditions or blood transfusions cause secondary hemochromatosis.
Primary hemochromatosis is also called hereditary hemochromatosis. It’s usually a recessive disorder, which means you need to receive associated gene mutations from both parents to develop it.
Mutations in the HFE gene cause the most common form of primary hemochromatosis. More than 100 variations in this gene have been linked to hemochromatosis, but the most common mutation is the C282Y variation.
The primary function of the HFE gene is to help your body regulate iron levels by providing your body with the instructions to produce a protein that helps regulate iron levels.
Primary hemochromatosis can be divided into four subtypes:
Type 1. People with type 1 primary hemochromatosis have two associated HFE genes, one from each parent. This is the most common type of primary hemochromatosis, and it affects more males than females.
Type 2. Type 2 primary hemochromatosis is also called juvenile hemochromatosis because it usually occurs between the ages of 15 and 20. It’s caused by mutations in the HFE2 or HAMP genes.
Type 3. People with type 3 primary hemochromatosis typically notice symptoms between the ages of 30 and 40. It’s caused by mutations in the TFR2 gene.
Type 4. Type 4 primary hemochromatosis is the only type known to be inherited from a dominant gene. It may develop anytime between the ages of 10 and 80.
Secondary hemochromatosis may be caused by:
Repeated blood transfusions. Secondary hemochromatosis can be caused by repeated blood transfusions to treat conditions such as thalassemia, sickle cell disease, and some forms of anemia. The increased risk comes from the extra iron found in red blood cells you receive during each transfusion.
Chronic liver disease. People with chronic liver disease may not be able to filter excess iron properly, which can lead to build-up.
Excess dietary iron. Secondary hemochromatosis from excess dietary iron is very rare. It might occur if you take an excessive amount of iron supplements.
Erythropoietic hemochromatosis. Erythropoietic hemochromatosis occurs due to ineffective erythropoiesis, which increases intestinal iron absorption.
The following are potential risk factors for hemochromatosis:
Family history. If a first-degree relative has hemochromatosis, your risk is elevated as well. Most forms of hemochromatosis require inheriting an associated mutation from both parents.
Ancestry. Hereditary hemochromatosis is most common among people of Northern European descent. It occurs in about 1 to 2 people per 500 in this group.
Sex. Men tend to develop symptoms earlier than women. This is partly because women lose iron through menstruation.
Age. Symptoms typically occur in middle age, although the exact age can depend on your subtype.
Alcohol use. Excessive alcohol use worsens liver damage and can accelerate organ injury in those with iron overload.
High intake of vitamin C or iron. Vitamin C enhances iron absorption. Excessive intake of both types of supplements could theoretically increase your risk of hemochromatosis.
Because many of the signs and symptoms of hemochromatosis overlap with more common disorders, diagnosis is often delayed.
The first steps to receive a diagnosis usually start by visiting your primary healthcare provider, who will:
Review your personal and family medical history
Review your symptoms
Perform a physical exam
They’re most likely to suspect hemochromatosis if you have a family history.
The first tests that your doctor will likely order include blood tests, such as:
Transferrin saturation (TSAT) test. This test measures the proportion of transferrin (the iron transport protein) that is bound to iron in your blood. A saturation value of more than about 45 percent in men or 40 percent in women is considered elevated, though the exact cutoff varies.
Serum ferritin levels. Ferritin is the primary protein responsible for storing iron in your body. Elevated ferritin—higher than 300 µg/L in men and 200 µg/L in women—can be a sign of hemochromatosis.
Genetic testing. A blood test can help doctors look for certain genetic markers of hemochromatosis. These gene markers can help confirm the diagnosis and also help doctors identify your subtype.
You may receive other tests to look at your organ health or to help rule out other conditions, including:
Magnetic resonance imaging (MRI), used to evaluate your liver or other organ health
Liver function tests, to look for markers of impaired liver function, such as AST, ALT, or bilirubin levels
Liver biopsy to measure the extent of fibrosis or cirrhosis if your doctor suspects you have liver damage
Treatment for hemochromatosis primarily aims to reduce excess iron stores and prevent or limit organ damage.
Once organ damage has become advanced, treatment can slow further decline but may not fully reverse damage.
Here are the main treatments for hemochromatosis.
Phlebotomy is the main therapy for most people with hereditary hemochromatosis. It involves removing some blood to lower the iron levels in your body. The process is effectively the same as when you donate blood, and in some cases, the blood may be donated.
Phlebotomy is usually performed once or twice a week for several months. Once iron levels and iron to ferritin ratios return to normal, you might scale back to every one to three months and eventually two to three times per year.
Some people, including those receiving blood transfusions to treat other blood conditions, aren’t eligible for phlebotomy.
For these people, chelation therapy may be used. A chelating agent is a medication given as a pill or an infusion that binds to excess iron so it can be excreted through your urine or feces.
To support treatment and reduce further damage to your organs, your doctor may recommend lifestyle changes such as:
Avoiding supplemental iron and multivitamins that contain iron.
Avoiding vitamin C supplements, because vitamin C enhances iron absorption.
Limiting or avoiding alcohol entirely, especially in those with liver disease or elevated iron, as alcohol accelerates liver injury.
Avoiding raw shellfish because individuals with iron overload are at greater risk of serious bacterial infections.
Because hereditary hemochromatosis is a genetic disorder, fully preventing it isn’t possible. However, several strategies can help you minimize your risk of serious complications.
Early detection and screening. If you have first-degree relatives (parents, siblings, or children) with hemochromatosis, it’s a good idea to get screened for an associated mutation. This will help you get started with treatment, if necessary, as soon as possible, avoiding serious organ damage.
Avoiding excess iron and vitamin C supplements. Because supplemental iron and vitamin C enhance absorption, avoiding unnecessary supplements may help lower the amount in your body. Talk to your healthcare provider about how much iron you need and the best ways to get it.
Lifestyle choices to protect the liver. Maximize your liver health to avoid other sources of damage by minimizing alcohol consumption, avoiding drugs known to harm your liver, maintaining a healthy weight, and getting vaccinated against hepatitis.
Regular monitoring. If you carry a known mutation for iron elevation, periodic checks allow you to get earlier treatment.
Repeated blood transfusions often cause secondary hemochromatosis. Going to all your follow-up appointments with your healthcare provider and getting regularly monitored is important to help screen for complications.
Hemochromatosis is characterized by too much iron in the body. Over time, this can damage the liver, heart, pancreas, and other organs.
Hemochromatosis can be caused by your genes, blood transfusions, or some other underlying conditions.
The main treatment is phlebotomy, which is the regular removal of blood to deplete excess iron.
Hemochromatosis caused by excessive dietary iron is very rare, but it is possible.
With proper monitoring and treatment, many people with hemochromatosis lead near-normal lives, but continual follow-up is essential. It’s best to talk to your healthcare provider if you suspect you may have a blood problem or if you have been previously diagnosed with one.
Primary hemochromatosis can’t be cured, but you can minimize complications by following your healthcare provider’s instructions. Many people manage their symptoms well and live full lives.
Your doctor will recommend the best phlebotomy schedule for you, considering the results of your blood tests. You may receive phlebotomy weekly or twice a week at first and then less frequently as iron levels decrease.
If untreated, hemochromatosis can damage your organs. It can lead to problems such as diabetes, liver failure, or heart disease.
No, most genetic mutations associated with hemochromatosis are recessive and need to be inherited from both parents. For largely unknown reasons, some people with a faulty copy of the HFE gene from both parents also don’t develop hemochromatosis.
Diet changes alone cannot manage hereditary hemochromatosis, and hemochromatosis caused by excess dietary iron is very rare. It’s been linked to brewing or drinking alcohol in iron pots or skillets.
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