Hemochromatosis, also known as iron overload, is an inherited condition in which your body accumulates too much iron.

This abnormal accumulation of iron in your liver, skin, heart, pancreas, joints and pituitary gland often leads to organ toxicity.

In hemochromatosis, not only your intestines absorb too much iron, but also they cannot get rid of it on their own.

This iron build-up can cause very unpleasant symptoms in your body.

Hemochromatosis is mostly genetic, and it’s the gene mutations which cause the most common type of hemochromatosis.

Once successfully diagnosed, this condition must be treated effectively before it can damage your liver, joints, pancreas and heart.

Causes of Hemochromatosis

Haemochromatosis is often caused by a faulty gene that affects how your body absorbs iron from your diet.

There are two forms of hemochromatosis that we must look at: Primary and Secondary Hemochromatosis.

Primary Hemochromatosis

It is also called hereditary hemochromatosis. You may develop this condition, if you have gotten this faulty gene (HFE gene) from both your parents.

You will not develop the condition if you inherit only one copy of the faulty gene from either of your parents. But you may pass the faulty gene that you inherited on to your children.

75% Patients with hereditary hemochromatosis may be asymptomatic or may show only general and organ-related signs and symptoms.

Also, only a minority of people who have the faulty genes ever develop serious health issues.

In women, symptoms may not appear till after menopause. This is because of reduced iron levels during menstruation due to menstrual discharge. Iron levels build up again after menstruation stops.

Secondary Hemochromatosis

It is developed as a result of your other medical conditions, such as:

  • If you get a lot of blood transfusions
  • Some types of anemia
  • Liver disease

It is also developed as a result of other risk factors, such as:

  • Excessive drinking
  • History of heart disease, liver disease and diabetes in your family
  • Consuming vitamin C or iron supplements that may greatly increase your body’s iron absorption


Normally the symptoms start between the ages of 30 and 60.

Some persons with hereditary hemochromatosis may never display symptoms. And, signs and symptoms often vary between individuals. Some common symptoms are:

  • Heart failure
  • Weakness
  • Joint pain, particularly in knuckles
  • Abdominal pain
  • Fatigue
  • Loss of sex drive
  • Impotence
  • Bronze or gray skin colour
  • Unexplained weight loss
  • Memory fog
  • Loss of your body hair

Sometimes people don’t show any symptoms until other medical issues arise, such as:

  • Erectile Dysfunction
  • Diabetes
  • Liver problems like cirrhosis
  • irregular heartbeat (heart arrhythmias)
  • Arthritis

Diagnosis of Hemochromatosis

Hereditary hemochromatosis can be difficult to diagnose. However, early diagnosis and treatment can prevent the symptoms from developing into more serious medical problems.

Your diagnosis depends on your symptoms, medical history, family history of hemochromatosis, and supplements you take. Based on these, your Doctor may recommend the following tests for you.

Physical Examination

This test involves checking your body thoroughly using a stethoscope.

Blood Tests

  • Serum transferrin saturation: This test measures the amount of iron bound to a protein transferrin, a protein that carries iron in your blood.
  • Serum ferritin:  This test measures the amount of ferritin protein that stores iron in your blood.

Liver Biopsy

In this procedure, a sample of tissue from your liver is removed, using a thin needle for testing in a lab. The sample is checked for iron presence and liver damage, especially cirrhosis.

Genetic Test

Genetic testing can show you if you are prone to iron overload. It can map out your genetic changes that can lead to hemochromatosis.

It can also see if you have a family history of iron overload. In this test, your blood may be tested or your cells collected from your mouth using a swab.

Genetic testing can detect the HFE C282Y variant associated with iron overload. H63D mutation is another variant detected in some people with iron overload. But research here is not conclusive, and therefore not absolute.


An MRI is a noninvasive test, and it measures how much iron is in your liver.


Through treatment you can effectively manage your iron overload in your blood.

Phlebotomy (Blood removal)

Hereditary hemochromatosis can be treated safely by removing blood from your body on a regular basis, just as if you would donate your blood.

The purpose is to remove some of your blood at routine intervals (once or twice a week) until your iron level returns to normal. You may have to undergo this procedure for about a year or more.

Initially, 1 pint of blood will be removed from your body once or twice a week to reduce your iron overload. Once your iron levels return to normal, you may undergo this procedure between longer intervals, and not as frequently as before.

Men may require phlebotomy 3 to 4 times a year. Women, on the other hand, require it 1 to 2 times a year. This cycle may have to continue for the rest of your life to manage your iron overload.

Prevention of Hemochromatosis

You can’t prevent hemochromatosis, but with medical help you can control the iron overload in your body.

Early diagnosis and treatment form the basis of your effort to slow down the onset and prognosis of medical conditions arising out of iron overload.

The complications can be controlled by dietary changes which involve avoiding multivitamins, vitamin C supplements and iron supplements.

You can lower your alcohol intake and avoid red meat as much as possible. You must also avoid raw or undercooked fish and shellfish.

Doctor-recommended vaccinations against hepatitis A and B can greatly help manage your iron overload.

Also, personalised dietary requirements and lifestyle changes based on a proper diagnosis can help you manage your iron overload.


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Sources: WebMD, NIDDK, Cleveland Clinic, Healthline, CDC, Medicine Plus, Johns Hopkins, Medscape, NHS, Mayo Clinic and UpToDate.

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