Hemochromatosis is a disease in which excess iron builds up in the body. When this happens, the excess iron may build up in your organs, leading to negative health effects.
Chronic hemochromatosis is the most common type of hemochromatosis and is not usually found until the condition has become fairly advanced.
This inherited condition is also known as iron overload syndrome. It affects one in every 250 people of Northern European descent and can develop from two different genetic mutations.
If left untreated, chronic hemochromatosis can result in serious complications such as organ damage and even death.
If you’ve been diagnosed with hemochromatosis, you will likely be given specific treatment recommendations based on your individual needs and risk factors. Let’s take a look at what that might entail.
Types and causes
There are two types of hemochromatosis:
1. Primary hemochromatosis is caused by a mutation in one of two genes: HFE and HJV. The mutation causes your body to absorb too much iron through normal digestion and through blood transfusions or surgery involving blood loss.
The excess iron builds up in your organs over time and damages them, causing organ failure and sometimes death if left untreated.
2. Secondary hemochromatosis is the buildup of excess iron in the body due to an underlying medical condition. The most common causes are chronic blood transfusions and chronic hepatitis C infection.
Chronic blood transfusions – Blood transfusions can lead to secondary hemochromatosis by boosting your body’s iron levels.
Chronic blood transfusions may be required for people who have low levels of red blood cells because of anemia or other conditions that affect the body’s ability to produce enough red blood cells.
Chronic hepatitis C infection – Hepatitis C is a virus that attacks your liver and causes inflammation and scarring.
It’s a severe disease that can lead to liver failure, liver cancer, and death if not treated properly. About 3 million people in the U.S. have hepatitis C, but only about half know they’re infected because they don’t feel sick or have any symptoms early on.
If you have hepatitis C, it’s essential to get treatment as soon as possible so you won’t develop liver damage later on.
You may have a generalized weakness if you feel weak and can’t complete daily tasks. You may have other symptoms, like:
- fatigue or exhaustion that makes it difficult to get out of bed in the morning
- finding it hard to concentrate or pay attention when talking with others
- a lack of energy to do things you normally enjoy
Lack of energy
If you have hemochromatosis and don’t know it, you may experience a feeling of lethargy. This can make it challenging to get through your daily activities, big or small. You might notice that you feel tired after doing things such as going for a walk with your dog or driving across town to pick up groceries. You may also start to feel tired all of the time, even when you are just sitting or lying down.
Abdominal pain or distention
- Abdominal pain or distention
- Indigestion and bloating
- Pain and tenderness in the upper right abdomen.
- Due to iron overload in the liver. If you have hemochromatosis, you may also have an enlarged spleen.
If you are a woman with hemochromatosis, you may notice that your body starts to undergo menopause earlier than expected. This is due to the iron overload in the liver and other body areas. Because of this, you may go into menopause as early as your mid-30s or 40s if not treated.
Menopause can cause infertility and changes in sexual function in women. It may also cause hot flashes and loss of bone density that can lead to osteoporosis later in life.
Diabetes mellitus is a condition where your body doesn’t produce enough insulin, or the cells in your body don’t respond appropriately to the insulin that you do produce.
As a result, glucose builds up in the blood instead of being absorbed by cells as fuel for energy or stored as fat.
Diabetes can lead to several other health conditions, including:
- Heart disease
- Kidney disease
Leukemia is a type of cancer that occurs when the body makes too many abnormal white blood cells. Normal white blood cells help fight off infections and disease, but leukemia occurs when the body makes too many abnormal white blood cells.
These abnormal white blood cells crowd out normal red and white blood cells in the bone marrow, making you more susceptible to infection.
Leukemia can also cause your immune system to stop working properly, allowing recurrent infections that don’t respond well to antibiotics or other treatments.
Leukemia can develop in any type of bone marrow cell and may affect any organ in your body, including your brain and nervous system, skin, lymph nodes, liver, spleen, and testicles.
Heart issues like arrhythmias, heart failure, and cardiomyopathy
Heart issues are rare in people with hemochromatosis, but they do occur. A heart arrhythmia is an abnormality of the heartbeat that can lead to cardiac arrest.
While this complication is uncommon, it should be noted that it’s more likely to happen if you have other risk factors for arrhythmias such as high blood pressure and diabetes.
Heart failure is a condition in which your heart can’t pump enough blood through your body, causing you to feel short of breath and tire easily. Heart failure is very common among people with hemochromatosis.
Memory Lapses Thyroid dysfunction
Memory lapses can signify many things, including hyperthyroidism or hypothyroidism. Thyroid dysfunction is more common in women than men, and it can be caused by other health problems.
Diagnosis and treatment
Hemochromatosis diagnosis is made by performing a blood test for transferrin saturation. Transferrin saturation is a measure of the amount of iron that is bound to transferrin, which carries iron in the blood. In healthy people, between 20% and 50% of the iron in their bodies is bound to transferrin.
People with hemochromatosis have an elevated transferrin saturation because they have more than twice as much iron in their bodies than normal.
The most common complication of hemochromatosis is liver disease. The liver plays an essential role in clearing excess iron from the body, so when too much iron builds up in the liver, it may become damaged and fail to function properly.
The most serious consequence of hepatic failure is death. Other complications include diabetes mellitus, joint disease, and heart failure.
The treatment of hemochromatosis depends on the stage of the disease.
Treatment for early-stage hemochromatosis may simply involve identifying and removing the source of excess iron intake.
For example, if you have been donating blood too frequently, your doctor may advise you to reduce your blood donations. If you have been taking iron supplements, you should stop taking them.
If the disease has progressed to an advanced stage, treatment will include the removal of excess iron from your body. This may be done by way of a procedure called phlebotomy or venesection.
During this procedure, blood is removed from your body and stored in case it’s needed later on as a transfusion during surgery or other medical emergencies.
The amount of blood removed depends on how much excess iron there is in your system; usually, between one and two pints are removed at each visit to the doctor’s office.