Haemochromatosis or excess iron in the body

Dr. Nabi Darya Vali (AIIMS)MBBS

September 16, 2020

December 03, 2020

Haemochromatosis or excess iron in the body
Haemochromatosis or excess iron in the body

Iron deficiency is one of the most common nutritional deficiencies around the world. We all know that iron is one of the most important minerals for the human body. It is one of the key components of haemoglobin, which is the substance responsible for transporting oxygen from the lungs to the other parts of the body.

It is the job of the intestines to absorb iron from the food we consume. While we get a small portion of our daily iron requirements from food, a large chunk of the iron available to the body comes from old red blood cells that are recycled by the body. The body also loses only negligible amounts of iron daily, meaning that it processes iron quite efficiently.

The body has a complex mechanism to control the level of iron in blood: the process involves the liver, which plays an important role in the production of a peptide called hepcidin and in signalling when the body has enough iron and doesn’t need any more. Still, sometimes the body ends up with excess iron. This condition is called hemochromatosis.

Haemochromatosis or excess iron in the body may occur for a number of reasons:

  • It could be genetic or hereditary
  • It could be brought on by other medical conditions such as chronic liver disease, anaemia or repeated blood transfusions as in the case of thalassemia (a blood disorder in which the body makes abnormal haemoglobin which in turn results in the destruction of red blood cells)

In people with haemochromatosis, the excess iron gets stored in the heart, joints, pancreas and liver.

Haemochromatosis or excess iron in the body signs and symptoms

An excess of anything is harmful. Some symptoms that show that the body may be absorbing excess iron are:

  • Unexplained weight loss
  • Skin that has a bronze or grey colour
  • Joint pain, especially your knuckles
  • Feeling tired
  • Stomach pain
  • Loss of sex drive
  • Loss of body hair
  • Heart flutter
  • Joint pain
  • Gastroenteritis (inflammation of the lining of the stomach and gut) and associated symptoms like vomiting

Haemochromatosis or excess iron in the body risks and causes

Hereditary haemochromatosis is a genetic condition in which the body is unable to properly regulate the amount of iron it absorbs from food. Very few people with the genetic mutation actually develop serious disease, and even then, the symptoms typically show up in midlife (in their 40s for men and 60s for women).

For people who do not have the genetic predisposition for haemochromatosis, iron overload is not usually a problem.

The body regulates the amount of iron by managing uptake: it downgrades absorption when it doesn’t need more iron.

That said, the body has no effective mechanism to remove or excrete the excess iron from the body—the most obvious way to remove excess iron is through bleeding. Females who menstruate, therefore, experience heavy blood flow. This also makes them less likely to have iron overload in the first place.

Studies have also shown that untreated haemochromatosis increases the risk of arthritiscancer, liver problems, diabetes as well as heart failure. (Read more: What is iron poisoning?)

Humans as well as pathogens need iron. Our body’s innate immune system tries to limit the availability of iron to harmful bacteria and viruses to fight them off (nutritional immunity). However, iron overload can prove counterproductive. This is because high levels of free iron stimulate the growth of virus and bacteria, making the body more susceptible to infections.

Haemochromatosis or excess iron in the body diagnosis

Since the symptoms overlap with those of other conditions, it can be difficult to diagnose haemochromatosis. However, tests can be done to make a diagnosis. The most common tests done to diagnose excess iron in the body include:

  • Blood tests
    • Serum transferrin saturation: This iron test measures the amount of iron bound to a protein called transferrin. Transferrin saturation values over 45% are considered too high. It is this protein that is responsible for carrying iron in your blood.
    • Serum ferritin: It 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.
  • MRI scans: An MRI scan can measure the degree of iron overload in the liver in a fast and non-invasive manner. 
  • Genetic screening: If you have high levels of iron in your blood, testing your DNA for mutations in the HFE gene is recommended. Discuss the pros and cons with your doctor if you’re considering genetic testing for haemochromatosis. HFE stands for homeostatic iron (Fe) regulator protein.
  • Liver biopsy: The doctor may take a tiny tissue sample from your liver if liver damage is suspected. This sample is then sent to a laboratory to be checked for the presence of iron as well as for evidence of liver damage, especially scarring or liver cirrhosis.

Haemochromatosis or excess iron in the body treatment

People with haemochromatosis are particularly prone to developing infections. Shellfish and raw fish contain certain bacteria that can cause prolonged infections and should therefore be avoided. Treatment options for haemochromatosis include: 

  • Chelation: Chelation therapy involves taking oral or injected medicine to remove excess iron from the body. Medications can include a drug that binds the excess iron before the body excretes it in the form of urine or stool. Even though this isn’t the first line of treatment, chelation is more suitable for people with preexisting conditions, such as heart problems. 
  • Phlebotomy: This treatment may be useful, especially for those with hereditary haemochromatosis. Phlebotomy is the regular removal of blood from the body, with the aim to bring the iron levels back to normal. The amount of blood removed and how often it's removed depend on your age, overall health and the severity of iron overload. (Read more: Leech therapy)
  • Lifestyle changes: Lifestyle changes can help to avoid iron overloading in people who are more at risk than others:
    • Quit alcohol: Alcohol consumption greatly increases the risk of liver damage in people with hereditary haemochromatosis.
    • Cut back on iron-rich and iron-fortified foods. Avoid iron supplements, especially those containing vitamin C as it increases the absorption of iron.
    • You can donate blood, provided you don’t have any preexisting conditions that prevent you from donating (example, tuberculosis).


References

  1. Cherayil B. J. (2011). The role of iron in the immune response to bacterial infection. Immunologic research, 50(1), 1–9
  2. Cassat, J. E., & Skaar, E. P. (2013). Iron in infection and immunity Cell host & microbe, 13(5), 509–519.
  3. David L. Witte, William H. Crosby, Corwin Q. Edwards, Virgil F. Fairbanks, Frank A. Mitros, Hereditary hemochromatosis Clinica Chimica Acta, Volume 245, Issue 2, 1996,139-200

Doctors for Haemochromatosis or excess iron in the body

Dr. Tanmay Bharani Dr. Tanmay Bharani Endocrinology
15 Years of Experience
Dr. Sunil Kumar Mishra Dr. Sunil Kumar Mishra Endocrinology
23 Years of Experience
Dr. Parjeet Kaur Dr. Parjeet Kaur Endocrinology
19 Years of Experience
Dr. M Shafi Kuchay Dr. M Shafi Kuchay Endocrinology
13 Years of Experience
Consult a Doctor

Medicines for Haemochromatosis or excess iron in the body

Medicines listed below are available for Haemochromatosis or excess iron in the body. Please note that you should not take any medicines without doctor consultation. Taking any medicine without doctor's consultation can cause serious problems.

cross
Ask your health query now and get connected with a doctor within 10 minutes!