What Is Hemochromatosis?
Hemochromatosis is a disorder where too much iron builds up in your body. Sometimes, it’s called “iron overload.”
Normally, your intestines absorb just the right amount of iron from the foods you eat. But in hemochromatosis, your body absorbs too much, and it has no way to get rid of it. So, your body stores the excess iron in your joints and organs such as your liver, heart, skin, pituitary gland, and pancreas. This damages them. If left untreated, hemochromatosis can make your organs stop working.
Hemochromatosis Types
There are two types of this condition -- primary and secondary.
Primary hemochromatosis is hereditary, meaning it runs in families. The condition is autosomal recessive, which means you have to get two of the genes that cause it -- one from your mother and one from your father -- to have hemochromatosis.
Secondary hemochromatosis happens for other reasons, like when someone has too much iron in their diet or has a condition that requires a lot of blood transfusions.
Hemochromatosis Causes
Hemochromatosis gene
The HFE gene controls how much iron your body stores from the food you eat. Two hemochromatosis mutations, C282Y and H63D, are thought to be responsible for most of the hereditary cases of the condition.
Other genes are also responsible for a small number of cases, about 10%-15%. These are called non-HFE hemochromatosis genes. If you have mutations of the HJV or HAMP genes, you usually have symptoms when you are young and may have cirrhosis (scarring of the liver) by the time you are a teenager.
Secondary hemochromatosis
This type usually happens when someone gets a lot of blood transfusions because of conditions such as severe anemia (sickle cell anemia) or bone marrow failure. The red blood cells given during a transfusion have a lot of iron. The body doesn't have a good way to remove iron from your system, so it can lead to a buildup of the mineral.
Buildup can also happen in the liver when it is damaged through cirrhosis or advanced, chronic hepatitis B or C.
Hemochromatosis Risk Factors
You are more likely to have hemochromatosis if:
- You have two of the mutated HFE genes
- A sibling or parent has the condition
- You are a white person of northern European descent
- You are a man (which makes you five times more likely to get the condition)
- You are postmenopausal or have had a hysterectomy (because you don't lose blood through your period any longer)
Hemochromatosis Symptoms
Up to half of people who have hemochromatosis don’t get any symptoms. In men, symptoms tend to show up between ages 30 and 50. Women often don’t show any signs of this condition until they’re over 50 or past menopause . Symptoms of hereditary hemochromatosis are the same as those of secondary hemochromatosis.
Symptoms of hemochromatosis include:
- Pain in your joints, especially your knuckles and knees
- Feeling tired
- Unexplained weight loss
- Skin that has a bronze or gray color
- Pain in your belly
- Loss of sex drive
- Loss of body hair
- Heart flutter
- Foggy memory
Sometimes, people don’t get any symptoms of hemochromatosis until other problems arise. These may include:
- Liver problems, including cirrhosis
- Diabetes
- Abnormal heartbeat
- Arthritis
- Erectile dysfunction (trouble having an erection)
If you take a lot of vitamin C or eat a lot of foods that contain it, you can make hemochromatosis worse. That’s because vitamin C helps your body absorb iron from food.
Hemochromatosis Diagnosis
It can be tricky for your doctor to diagnose hemochromatosis because other conditions have the same symptoms. They might want you to get tested if:
- You have symptoms
- You have risk factors for the condition
- A family member has the disorder
Ways your doctor can figure out if you have hemochromatosis include:
Checking your history
They’ll ask about your family and if anyone has hemochromatosis or signs of it. They might also ask if you or others in your family have arthritis or liver disease, which might mean you or a family member has hemochromatosis but doesn’t know about it.
Physical exam
Your doctor will examine your body. This involves using a stethoscope to listen to what’s going on inside. They might also tap on different parts of your body.
Blood tests
Two tests can give your doctor a clue about hemochromatosis:
- Transferrin saturation. This shows how much iron is stuck to transferrin, a protein that carries iron in your blood.
- Serum ferritin. This test measures the amount of ferritin, a protein that stores iron, in your blood.
If either of these shows you have more iron than you should, your doctor might order a third test to see if you have a gene that causes hemochromatosis.
Liver biopsy
Your doctor will take a small piece of your liver. They’ll look at it under a microscope to see if there’s any liver damage.
MRI
This is a scan that uses magnets and radio waves to take a picture of your organs.
Hemochromatosis Treatment
If you have primary hemochromatosis, doctors treat it by removing blood from your body on a regular basis (phlebotomy). It’s a lot like donating blood. Your doctor will insert a needle into a vein in your arm or leg. The blood flows through the needle into a tube that’s attached to a bag.
The goal is to remove some of your blood so your iron levels return to normal. This could take up to a year or more. Blood removal is divided into two parts: initial treatment and maintenance treatment.
Initial treatment
You’ll visit your doctor’s office or a hospital once or twice a week to have your blood drawn. You may have up to a pint taken at a time.
Maintenance treatment
Once your blood iron levels have gone back to normal, you’ll still need to have blood taken, but not as often. The frequency will be based on how fast iron builds back up in your body but is usually done two to four times a year.
If you have secondary hemochromatosis, or your veins are too fragile for blood draws, your doctor may prescribe chelation therapy. With this treatment, your doctor will give you medication that removes iron from your body through your urine and poop.
Hemochromatosis Complications
If you have hemochromatosis and don't get treated, it can lead to problems with your joints and the organs that store iron such as the liver, heart, and pancreas. Over time, hemochromatosis can cause problems including:
- Liver damage, particularly cirrhosis
- Diabetes, from damage to the pancreas
- Heart conditions including congestive heart failure and arrhythmia (irregular heart rhythm)
- Reproductive issues such as loss of sex drive and erectile dysfunction in men and loss of periods in women
- Skin which can look gray or become darker because of iron deposits in your skin cells
Hemochromatosis Home Remedies
If you are getting phlebotomy, you usually don't need to make any other changes because it takes care of high iron levels in your body.
But if you want to reduce your risk of complications from hemochromatosis, you can do the following:
- Avoid alcohol, which can cause or worsen liver damage
- Don't eat raw fish or shellfish, which can have bacteria that can cause infections in people with high iron levels
- Don't take vitamin C supplements, which can increase your iron absorption (but you can still eat foods with vitamin C)
- Don't take iron supplements or multivitamins that have iron
- Avoid eating cereals that are fortified with iron
- Reduce your intake of foods high in iron such as oysters, muscles, duck, spinach, and artichokes