Hemochromatosis - Diagnosis and treatment (2022)

Diagnosis

Hereditary hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue may be due to conditions other than hemochromatosis.

Many people with the disease don't have any signs or symptoms other than elevated levels of iron in their blood. Hemochromatosis may be identified because of abnormal blood tests done for other reasons or from screening of family members of people diagnosed with the disease.

Blood tests

The two key tests to detect iron overload are:

  • Serum transferrin saturation. This test measures the amount of iron bound to a protein (transferrin) that carries iron in your blood. Transferrin saturation values greater than 45% are considered too high.
  • Serum ferritin. This test measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than normal, your doctor will check your serum ferritin.

Because a number of other conditions can also cause elevated ferritin, both blood tests are typically abnormal among people with this disorder and are best performed after you have been fasting. Elevations in one or all of these blood tests for iron can be found in other disorders. You may need to have the tests repeated for the most accurate results.

Additional testing

Your doctor may suggest other tests to confirm the diagnosis and to look for other problems:

(Video) Hemochromatosis - causes, symptoms, diagnosis, treatment, pathology

  • Liver function tests. These tests can help identify liver damage.
  • MRI. An MRI is a fast and noninvasive way to measure the degree of iron overload in your liver.
  • Testing for gene mutations. Testing your DNA for mutations in the HFE gene is recommended if you have high levels of iron in your blood. If you're considering genetic testing for hemochromatosis, discuss the pros and cons with your doctor or a genetic counselor.
  • Removing a sample of liver tissue for testing (liver biopsy). If liver damage is suspected, your doctor may have a sample of tissue from your liver removed, using a thin needle. The sample is sent to a laboratory to be checked for the presence of iron as well as for evidence of liver damage, especially scarring or cirrhosis. Risks of biopsy include bruising, bleeding and infection.

Screening healthy people for hemochromatosis

Genetic testing is recommended for all first-degree relatives — parents, siblings and children — of anyone diagnosed with hemochromatosis. If a mutation is found in only one parent, then children do not need to be tested.

More Information

  • Genetic testing
  • Liver function tests
  • MRI
  • Needle biopsy

Treatment

Blood removal

Doctors can treat hereditary hemochromatosis safely and effectively by removing blood from your body (phlebotomy) on a regular basis, just as if you were donating blood.

The goal of phlebotomy is to reduce your iron levels to normal. The amount of blood removed and how often it's removed depend on your age, your overall health and the severity of iron overload.

(Video) Hemochromatosis: causes,pathophysiology,signs and symptoms,diagnosis and treatment

  • Initial treatment schedule. Initially, you may have a pint (about 470 milliliters) of blood taken once or twice a week — usually in a hospital or your doctor's office. While you recline in a chair, a needle is inserted into a vein in your arm. The blood flows from the needle into a tube that's attached to a blood bag.
  • Maintenance treatment schedule. Once your iron levels have returned to normal, blood can be removed less often, typically every two to three months. Some people may maintain normal iron levels without having any blood taken, and some may need to have blood removed monthly. The schedule depends on how rapidly iron accumulates in your body.

Treating hereditary hemochromatosis can help alleviate symptoms of tiredness, abdominal pain and skin darkening. It can help prevent serious complications such as liver disease, heart disease and diabetes. If you already have one of these conditions, phlebotomy may slow the progression of the disease, and in some cases even reverse it.

Phlebotomy will not reverse cirrhosis or joint pain, but it can slow the progression.

If you have cirrhosis, your doctor may recommend periodic screening for liver cancer. This usually involves an abdominal ultrasound and CT scan.

Chelation for those who can't undergo blood removal

If you can't undergo phlebotomy, because you have anemia, for example, or heart complications, your doctor may recommend a medication to remove excess iron. The medication can be injected into your body, or it can be taken as a pill. The medication binds excess iron, allowing your body to expel iron through your urine or stool in a process that's called chelation (KEE-lay-shun). Chelation is not commonly used in hereditary hemochromatosis.

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(Video) Hemochromatosis - Causes, Symptoms and Treatment

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

In addition to therapeutic blood removal, you may further reduce your risk of complications from hemochromatosis if you:

  • Avoid iron supplements and multivitamins containing iron. These can increase your iron levels even more.
  • Avoid vitamin C supplements. Vitamin C increases absorption of iron. There's usually no need to restrict vitamin C in your diet, however.
  • Avoid alcohol. Alcohol greatly increases the risk of liver damage in people with hereditary hemochromatosis. If you have hereditary hemochromatosis and you already have liver disease, avoid alcohol completely.
  • Avoid eating raw fish and shellfish. People with hereditary hemochromatosis are susceptible to infections, particularly those caused by certain bacteria in raw fish and shellfish.

Additional dietary changes generally aren't required for people receiving blood removal treatment.

Preparing for your appointment

Make an appointment with your primary care doctor if you have any signs or symptoms that worry you. You may be referred to a specialist in digestive diseases (gastroenterologist), or to another specialist, depending on your symptoms. Here's some information to help you get ready for your appointment, and what to expect from your doctor.

(Video) Diagnosis

What you can do

  • Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet.
  • Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
  • Write down key personal information, including any major stresses or recent life changes. Learn if you have any liver disease in your family by asking your family members, if possible.
  • Make a list of all medications, vitamins or supplements that you're taking.
  • Take a family member or friend along to help you remember what's been discussed.
  • Write down questions to ask your doctor.

Questions to ask your doctor

Some basic questions to ask your doctor include:

  • What's the most likely cause of my symptoms?
  • What kinds of tests do I need?
  • Is my condition temporary or will I always have it?
  • What treatments are available? And what do you suggest for me?
  • I have other health conditions. How can I best manage these conditions together?
  • Are there any restrictions that I need to follow?
  • Are there any brochures or other printed material that I can take with me? What websites do you recommend?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Be ready to answer questions your doctor may ask:

  • When did you begin experiencing symptoms?
  • Have your symptoms been continuous or do they come and go?
  • How severe are your symptoms?
  • Does anything seem to improve your symptoms?
  • What, if anything, appears to worsen your symptoms?
  • Does anyone in your family have hemochromatosis?
  • How many alcoholic beverages do you drink in a week?
  • Are you taking iron supplements or vitamin C?
  • Do you have a history of viral hepatitis, such as hepatitis C?
  • Have you required blood transfusions before?

By Mayo Clinic Staff

(Video) What's New for the Definition, Diagnosis and Treatment of Hemochromatosis in 2020?

Dec. 30, 2020

FAQs

Hemochromatosis - Diagnosis and treatment? ›

Doctors can treat hereditary hemochromatosis safely and effectively by removing blood from your body (phlebotomy) on a regular basis, just as if you were donating blood. The goal of phlebotomy is to reduce your iron levels to normal.

How does hemochromatosis get diagnosed? ›

a blood test to check for substances that indicate a problem with your liver. a liver biopsy – where a needle is used to remove a small sample of liver tissue under local anaesthetic so it can be checked for signs of damage. an MRI scan to check for iron in your liver and look for signs of liver damage.

When is hemochromatosis usually diagnosed? ›

Symptoms of hemochromatosis usually show up in adulthood after the body has accumulated a significant amount of excess iron. Symptoms generally occur after age 40 in men and even later in women.

What is the best treatment for hemochromatosis? ›

The most commonly used treatment for haemochromatosis is a procedure to remove some of your blood, known as a phlebotomy or venesection. The procedure is similar to giving blood. You lie back in a chair and a needle is used to drain a small amount of blood, usually about 500ml, from a vein in your arm.

At what age should you be tested for hemochromatosis? ›

You should be screened if you have a first-degree relative with hereditary hemochromatosis and you are between 18 and 30 years of age. The risk of organ damage increases the longer it is untreated. The initial testing will most likely include a number of blood tests.

What is the life expectancy of someone with hemochromatosis? ›

Survival and causes of death were analyzed among 163 patients with hemochromatosis diagnosed between 1959 and 1983. Mean followup was 10.5 +/- 5.6 years (+/- SD). Cumulative survival was 76% at 10 years and 49% at 20 years.

What are the 3 types of hemochromatosis? ›

Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HJV or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC40A1 gene cause type 4 hemochromatosis.

What triggers hemochromatosis? ›

Haemochromatosis is caused by a faulty gene that can be passed on to a child by their parents. Most cases are linked to a fault in a gene called HFE, which affects your ability to absorb iron from food. Normally, your body maintains a steady level of iron.

What are the stages of hemochromatosis? ›

There are four main categories of pathophysiological mechanisms of HH that should be mentioned: (1) the increased absorption of dietary iron in the upper intestine, (2) decreased expression of the iron-regulatory hormone hepcidin, (3) the altered function of HFE protein, and (4) tissue injury and fibrogenesis induced ...

How can I lower my ferritin levels quickly? ›

Dietary changes can include:
  1. avoiding supplements that contain iron.
  2. avoiding supplements that contain vitamin C, as this vitamin increases iron absorption.
  3. reducing iron-rich and iron-fortified foods.
  4. avoiding uncooked fish and shellfish.
  5. limiting alcohol intake, as this can damage the liver.

Can hemochromatosis go away? ›

Doctors can treat hereditary hemochromatosis safely and effectively by removing blood from your body (phlebotomy) on a regular basis, just as if you were donating blood. The goal of phlebotomy is to reduce your iron levels to normal.

What foods to avoid if you have high ferritin levels? ›

What to avoid
  • Red meat. Most red meats, including beef, lamb, and venison, are a rich source of heme iron. ...
  • Raw shellfish. Shellfish, such as mussels, oysters, and clams, sometimes contain Vibrio vulnificus bacteria. ...
  • Vitamin C. Vitamin C increases the absorption of nonheme iron. ...
  • Fortified foods. ...
  • Alcohol.
May 7, 2020

Does hemochromatosis cause weight gain? ›

Hemochromatosis may cause belly pain, weakness, tiredness, and weight loss. It also can scar the liver, cause joint pain, and darken the skin. In late stages, it can damage the heart and joints, and can cause diabetes.

Is hemochromatosis classed as a critical illness? ›

Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems. Early diagnosis and treatment is critical to prevent complications from the disorder.

Is hemochromatosis an autoimmune disease? ›

This disorder is caused by mutations in the hemojuvelin or hepcidin genes. Neonatal hemochromatosis. In this severe disorder, iron builds up rapidly in the liver of the developing baby in the womb. It is thought to be an autoimmune disease, in which the body attacks itself.

What is considered a dangerously high ferritin level? ›

Many laboratories consider serum ferritin levels greater than 200 ng/mL in women and greater than 300 ng/mL in men to be abnormal.

What part of the body does hemochromatosis affect? ›

Hemochromatosis is a disorder in which extra iron builds up in the body to harmful levels. Without treatment, hemochromatosis can cause iron overload, a buildup of iron that can damage many parts of the body, including your liver, heart, pancreas, endocrine glands, and joints.

How much turmeric should I take for hemochromatosis? ›

Studies typically use doses of 500–2,000 mg of turmeric per day, often in the form of an extract with a curcumin concentration that is much higher than the amounts naturally occurring in foods.

Is hemochromatosis a death sentence? ›

If untreated, hemochromatosis may lead to death from cirrhosis, diabetes, malignant hepatoma, or cardiac disease.

Can I drink alcohol if I have hemochromatosis? ›

Alcohol consumption associated with genetic factors increases the severity of hereditary hemochromatosis and therefore the risk of cirrhosis and cancer. Consequently, patients who have the disease should be discouraged from consuming excessive quantities of alcohol because of the added hepatotoxicity it induces.

What is the difference between haemochromatosis and hemochromatosis? ›

Hemosiderosis often results from multiple blood transfusions. Hemochromatosis refers to iron deposition in the parenchymal cells of the liver, pancreas, heart, and other organs. Hemochromatosis has greater clinical significance because it leads to cirrhosis and hepatocellular carcinoma.

What are the symptoms of too much iron? ›

Excessive iron can be damaging to the gastrointestinal system. Symptoms of iron toxicity include nausea, vomiting, diarrhea and stomach pain. Over time, iron can accumulate in the organs, and cause fatal damage to the liver or brain.

Is itching a symptom of hemochromatosis? ›

very itchy skin. tenderness or pain around the liver. yellowing of the eyes and skin (jaundice)

What are the four types of hemochromatosis? ›

Hemochromatosis has been separated into four distinct disorders – hereditary (classic) hemochromatosis, also known as HFE-related hemochromatosis; hemochromatosis type 2 (juvenile hemochromatosis); hemochromatosis type 3, also known as TFR2-related hemochromatosis; and hemochromatosis type 4, also known as ferroportin ...

Does hemochromatosis affect your teeth? ›

Genetic haemochromatosis (GH) is responsible for iron overload. Increased transferrin saturation (TSAT) has been associated with severe periodontitis, which is a chronic inflammatory disease affecting tissues surrounding the teeth and is related to dysbiosis of the subgingival microbiota.

Is ferritin level 400 high? ›

A serum ferritin level above 200 ng/mL for premenopausal women or 400 ng/mL for men (in the absence of inflammation, cancer or hepatitis) supports the diagnosis of hereditary hemochromatosis. Routine therapeutic phlebotomy should be initiated if the serum ferritin level is >300 ng/mL in men or >200 ng/mL in women.

Does turmeric lower ferritin levels? ›

Turmeric is one of the BEST nutritional supplements shown by clinical research to reduce iron build-up in the body. Most significantly, turmeric can lower ferritin by chelating iron from the body.

Is 500 a high ferritin level? ›

In a healthy man in his 30s or 40s, a stable elevated ferritin level of 500 – 600 μg/l is suggestive of preclinical hereditary haemochromatosis. Mildly elevated serum ALT and fatigue, as in our patient, are common initial symptoms of the transition to clinical stage disease.

Does hemochromatosis affect sleep? ›

Many patients also have periodic limb movements in sleep (PLMS), and they may complain of insomnia and/or hypersomnia. Hereditary haemochromatosis is an autosomal recessive disease of iron metabolism in which increased intestinal absorption of iron leads to iron deposition in multiple organs.

Is hemochromatosis a lifelong disease? ›

With early diagnosis and treatment, a normal lifespan is possible. If organ damage has already occurred, treatment may prevent further damage and improve life expectancy. However, treatment may not be able to reverse existing damage. If hemochromatosis isn't treated, it can lead to severe organ damage or even death.

What type of doctor treats high ferritin? ›

Family doctors and internal medicine specialists may diagnose and treat hemochromatosis. Other doctors also may be involved in diagnosing and treating the disease, including: Hematologists (blood disease specialists)

Are Bananas high in iron? ›

Iron content in bananas is low, approximately 0.4 mg/100 g of fresh weight.

Can I eat eggs if I have hemochromatosis? ›

Eggs are a source of nonheme iron, so are they fine to eat on a hemochromatosis diet? Actually, the answer is yes — due to a phosphoprotein in the egg yolk called phosvitin. Research has shown that phosvitin may inhibit the absorption of iron, among other minerals.

Does apple cider vinegar lower iron? ›

The acid found in apple cider vinegar helps release iron from the food you eat, so it can be used throughout the body. This is important because iron is a key component of hemoglobin and myoglobin.

Can hemochromatosis cause eye problems? ›

Ocular manifestations of hemochromatosis may cause visual changes such as diminished visual acuity due to pathological changes in the cornea and retina.

Does hemochromatosis cause bloating? ›

Early symptoms include the following which generally occur in a decreasing order of frequency: chronic fatigue or tiredness. pain and stiffness in the joints of the hand particularly the small joints at the base of the thumb, index and middle fingers. abdominal pain and bloating in the upper right region.

Does hemochromatosis affect blood pressure? ›

Liver abnormalities associated with classic hereditary hemochromatosis include hepatomegaly, and scarring of the liver (cirrhosis), high blood pressure of the branches of the portal vein (portal hypertension), which is the main vein that carries blood from the intestines to the liver.

Does hemochromatosis affect the brain? ›

Hereditary hemochromatosis (HH), a syndrome characterized by systemic iron loading, usually does not involve the central nervous system (CNS), and only sporadic cases of neurological abnormalities or brain-MRI T2/T2*GRE hypointensity have been reported [4].

Can hemochromatosis lead to leukemia? ›

There is a general consensus that the occurrence of leukemia is a multistep process involving multiple genetic alterations, including transferrin receptor 1 gene, hemochromatosis (HFE) gene and some other genes involved in iron metabolism [9, 10].

How is hemochromatosis diagnosed? ›

Doctors usually order blood tests to check for the gene mutations link that cause hemochromatosis. Finding two copies of the HFE link gene with the C282Y mutation confirms the diagnosis of primary hemochromatosis. Doctors usually order blood tests to check for the gene mutations that cause hemochromatosis.

Can hemochromatosis affect thyroid? ›

Men with hemochromatosis had a much greater iron load than women, and they also had a surprisingly higher incidence of thyroid disease. Iron may have caused injury to the thyroid, followed by the development of antithyroid antibodies and hypothyroidism.

Does hemochromatosis weaken your immune system? ›

Iron overload as seen in hereditary hemochromatosis patients enhances suppressor T-cell (CD8) numbers and activity, decreases the proliferative capacity, numbers, and activity of helper T cells (CD4) with increases in CD8/CD4 ratios, impairs the generation of cytotoxic T cells, and alters immunoglobulin secretion when ...

Can a blood test detect hemochromatosis? ›

Many people with the disease don't have any signs or symptoms other than elevated levels of iron in their blood. Hemochromatosis may be identified because of abnormal blood tests done for other reasons or from screening of family members of people diagnosed with the disease.

Can you have hemochromatosis and not know it? ›

Many people with hereditary hemochromatosis don't know they have it. Early symptoms of hemochromatosis, such as feeling tired or weak, are common and can cause it to be confused with a variety of other diseases. Men with hereditary hemochromatosis are more likely to develop complications and often at an earlier age.

What level of ferritin is considered hemochromatosis? ›

Serum ferritin levels elevated higher than 200 mcg/L in premenopausal women and 300 mcg/L in men and postmenopausal women indicate primary iron overload due to hemochromatosis, especially when associated with high transferrin saturation and evidence of liver disease.

What type of doctor treats high ferritin? ›

Family doctors and internal medicine specialists may diagnose and treat hemochromatosis. Other doctors also may be involved in diagnosing and treating the disease, including: Hematologists (blood disease specialists)

Is hemochromatosis an autoimmune disease? ›

This disorder is caused by mutations in the hemojuvelin or hepcidin genes. Neonatal hemochromatosis. In this severe disorder, iron builds up rapidly in the liver of the developing baby in the womb. It is thought to be an autoimmune disease, in which the body attacks itself.

What foods to avoid if you have hemochromatosis? ›

6 foods to avoid in a hemochromatosis diet
  • Vitamin C-rich foods. Dr. ...
  • Red meat in excess. Nutritionist Best says animal sources of protein, like beef, contain heme iron, which is more easily absorbed by the body. ...
  • Raw fish and shellfish. ...
  • Alcoholic beverages. ...
  • Sugar. ...
  • Iron-fortified foods.
Jun 28, 2021

Does hemochromatosis cause weight gain? ›

Hemochromatosis may cause belly pain, weakness, tiredness, and weight loss. It also can scar the liver, cause joint pain, and darken the skin. In late stages, it can damage the heart and joints, and can cause diabetes.

What are the 3 types of hemochromatosis? ›

Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HJV or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC40A1 gene cause type 4 hemochromatosis.

What are the stages of hemochromatosis? ›

There are four main categories of pathophysiological mechanisms of HH that should be mentioned: (1) the increased absorption of dietary iron in the upper intestine, (2) decreased expression of the iron-regulatory hormone hepcidin, (3) the altered function of HFE protein, and (4) tissue injury and fibrogenesis induced ...

Is ferritin level 400 high? ›

Many laboratories consider serum ferritin levels greater than 200 ng/mL in women and greater than 300 ng/mL in men to be abnormal. However, a large percentage of the general population has a serum ferritin level between 200 and 1,000 ng/mL.

Why is my ferritin high but iron normal? ›

Higher than normal results

A high ferritin level can indicate iron overload. Iron overload is most commonly associated with hemochromatosis, a condition where your body absorbs more iron that it needs. Elevated ferritin levels can also be due to something other than iron overload.

What does a ferritin level of 500 mean? ›

In a healthy man in his 30s or 40s, a stable elevated ferritin level of 500 – 600 μg/l is suggestive of preclinical hereditary haemochromatosis. Mildly elevated serum ALT and fatigue, as in our patient, are common initial symptoms of the transition to clinical stage disease.

Videos

1. Understanding Haemochromatosis
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2. Mayo Clinic: William Palmer, M.D. - Hereditary Hemochromatosis
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3. Hemochromatosis - My Iron Overload Story (2019)
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4. Haemochromatosis: Symptoms
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5. Hemochromatosis | Symptoms | Diagnosis and Treatment
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6. Haemochromatosis: impact of diagnosis
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