Iron is a mineral your body needs to stay healthy and function properly. Iron is a major component of hemoglobin, a protein in red blood cells that carries oxygen from your lungs to the rest of your body. Iron is also used to make certain hormones such as erythropoietin (EPO), which signals the bone marrow to make more red blood cells.
Normally, your intestines absorb the right amount of iron from the food you eat. Sometimes, the body absorbs more iron than it needs, which is a condition called hemochromatosis. Your body has no natural way to rid itself of this excess iron, so it is stored in your joints and organs, such as your liver, heart and pancreas. Without treatment, hemochromatosis causes iron overload, which can seriously damage those organs.
Too much iron in the heart can cause an arrhythmia or heart failure. Excess iron in the liver can lead to cirrhosis, liver cancer or liver failure. Too much iron in the pancreas can result in the development of diabetes.
Hemochromatosis is relatively common, affecting more than 1 million Americans. There are two main types: primary and secondary.
Primary hemochromatosis, also called hereditary hemochromatosis, is usually caused by genetic factors. It typically results from mutations to the HFE gene, which controls how much iron you absorb from food. The gene mutation that most commonly causes hemochromatosis is C282Y. You are more likely to develop the disorder if you inherit two copies of the C282Y mutation, one from each parent.
Secondary hemochromatosis, which is much less common, develops due to other medical conditions, such as certain types of anemia and liver disease. It can also develop as a result of receiving numerous blood transfusions.
Symptoms typically develop after age 40 once iron has built up to a toxic level. In general, women develop symptoms about 10 years later than men, usually after menopause. The reason for the difference is that women lose blood, and therefore iron, from childbirth and menstruation. However, it begins to accumulate once they enter menopause.
Some of the more common symptoms of hemochromatosis include joint pain, fatigue, bronze or gray skin color, pain in your abdomen due to an enlarged liver, loss of sex drive, erectile dysfunction, hair loss, memory fog, abnormal heartbeat and unexplained weight loss.
Diagnosing hemochromatosis can be challenging because its symptoms are common to other conditions. Visit your doctor if you are experiencing symptoms, have one of the conditions associated with excess iron in the organs or have a family member who has hemochromatosis.
To make a diagnosis, your doctor will first ask about your symptoms as well as your personal and family medical history. He or she will perform a physical exam, which includes listening to your body with a stethoscope and tapping on your abdomen to check for an enlarged liver.
Your doctor will likely order blood tests, including a transferrin saturation test, which shows how much iron is attached to transferrin, a protein that carries iron in your blood. Another blood test is the serum ferritin, which measures the amount of ferritin, a protein that stores iron, in your blood. You doctor may order a blood test to look for the C282Y mutation as well.
If your doctor suspects liver damage, he or she may perform a liver biopsy. He or she will take a small sample of liver tissue through a needle and look at it under a microscope to see if there’s any liver damage. In some cases, you doctor can accurately evaluate the health of your liver from an MRI scan.
Hemochromatosis can be treated safely and effectively by removing blood, and therefore excess iron, from your body on a routine basis. This process is called phlebotomy, and it’s just like donating blood. The amount of blood removed and the frequency of treatment depend on your age and overall health, as well as the severity of your condition. The goal of phlebotomy is to reduce your iron level to normal.
If you have a condition that excludes you from treatment with phlebotomy, such as anemia or heart complications, another treatment may be recommended to remove the iron from your body. Chelation therapy uses medication that binds to the excess iron and allows it to be expelled from your body through your urine or stool.
If you have hemochromatosis, you should eat a healthy, well-balanced diet. Your doctor may recommend avoiding raw shellfish, iron and vitamin C supplements (vitamin C helps your body absorb iron from food) and limiting alcohol. If you have liver disease, particularly cirrhosis, you should stop drinking alcohol.
If you have a first-degree relative – parent, sibling or child – with hemochromatosis and are between 18 and 30 years old, you should be screened for the condition regularly. This way, if the condition is present, it can be discovered in its early stages, before iron overload causes organ damage. Hemochromatosis screening may include blood testing and genetic testing.