Hemochromatosis: common yet little known genetic disorder

Introduction

Many of us have occasionally felt very tired and achy, and perhaps thought that it could be due to iron deficiency. However, not many people would think that the symptoms they are experiencing could actually be caused by too much iron in their body. Over time, excess iron can build up in organs such as the liver, heart, and pancreas, which may lead to long-term complications, if left untreated.^1–3

What is hemochromatosis?

Hemochromatosis is a condition in which the body absorbs and stores too much iron from food.² It is the most common genetic disorder in the Western world.⁴ In the United States, Europe and Australia, the prevalence of HH is similar: one case per 200 to 400 people.⁵ It is sometimes known as the ‘Celtic curse’, as it is more prevalent in families with Celtic heritage.²

The most common type of hemochromatosis is hereditary hemochromatosis (HH), caused by genetic variants—most often in the HFE gene—that lead to increased absorption of dietary iron.² Raising awareness about hemochromatosis is important, as early detection and treatment can prevent most serious outcomes.²

Who is affected?

Hereditary hemochromatosis is most commonly associated with:^1,2,6

• A family history of the condition

• Northern European ancestry, where certain HFE variants are more prevalent

• The presence of two copies of specific HFE variants (such as C282Y).

Both men and women are at risk of developing hemochromatosis but in women symptoms often appear later in life due to blood loss during their child-bearing years.²

What are the common symptoms?

Symptoms vary widely and may include:^1,2,6

• Persistent tiredness or general weakness

• Joint pain

• Abdominal pain

• Reduced libido or menstrual changes

• Skin darkening

• Mood changes

• Weight loss

Early symptoms, which include fatigue and joint pain, are similar to symptoms of iron deficiency, although some people may not have any symptoms at all.²

How is hemochromatosis diagnosed?

Diagnosis typically begins with blood tests that assess iron status, including:^1,7,8

• Transferrin saturation, which indicates how much iron is bound to proteins in the blood

• Ferritin, which reflects iron stores within the body.

If these tests suggest iron overload, genetic testing for HFE variants is often performed. Imaging or further liver assessment may be needed if organ involvement is suspected.^1,7,8

What is the recommended treatment?

The primary treatment is therapeutic venesection (also called phlebotomy), a procedure similar to blood donation. Regular venesection effectively lowers iron levels and prevents complications.^1,2,8–10

Treatment usually involves two phases:^1,2

1. Initial phase – venesection at regular intervals (often weekly or fortnightly) until iron stores reach safe levels

2. Maintenance phase – periodic venesection, commonly every few months, to keep iron levels within the target range

What are the complications of hemochromatosis?

The excess iron absorbed and stored in the body of a person with hemochromatosis can damage their organs, cause serious health problems over time, and even lead to death.² Complications in the liver can include cirrhosis, liver failure, and liver cancer. Iron overload can also damage other parts of the body such as the heart, pancreas, and joints, leading to heart failure, diabetes, and arthritis.¹⁰

Living with hemochromatosis

With appropriate treatment, most people with hemochromatosis lead healthy lives. Helpful general measures often include:^1,9,10

• Limiting alcohol to protect liver health

• Avoiding iron and high-dose vitamin C supplements (which increase iron absorption)

• Avoiding raw fish and shellfish (as people with hemochromatosis are at risk of infection)

• Maintaining a balanced, varied diet

Further information and support

A range of reputable organisations provide information, education, and support for individuals and families affected by hemochromatosis, including the following:

United States

• Iron Disorders Institute – https://www.irondisorders.org/hemochromatosis and https://hemochromatosis.org/

• Mayo Clinic – https://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/syc-20351443

• Cleveland Clinic – https://my.clevelandclinic.org/health/diseases/14971-hemochromatosis-iron-overload

Australia

• Haemochromatosis Australia – https://www.haemochromatosis.org.au

• Healthdirect Australia – https://www.healthdirect.gov.au/haemochromatosis

United Kingdom

• Haemochromatosis UK – https://www.haemochromatosis.org.uk

• NHS – https://www.nhs.uk/conditions/haemochromatosis

Summary

Hemochromatosis is a common genetic disorder in which the body absorbs and stores too much iron. Over time, excess iron can accumulate in vital organs and may lead to serious complications. However, with early detection and timely treatment (primarily through regular venesection/phlebotomy) iron overload can be managed effectively. Combined with healthy lifestyle choices and ongoing monitoring, many people with hemochromatosis live long and healthy lives. Trusted health organisations and patient groups provide valuable information and support for individuals and families affected by the condition.

References

(1)  Mayo Clinic. Hemochromatosis. 2025. Available from: https://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/syc-20351443

(2)  Haemochromatosis Australia. Haemochromatosis. 2025. Available from: https://www.haemochromatosis.org.au

(3)  Haemochromatosis UK. Understanding Genetic Haemochromatosis. 2025. Available from: https://www.haemochromatosis.org.uk

(4)  Canadian Hemochromatosis Society. The Condition. 2025. Available from: https://www.toomuchiron.ca/hemochromatosis/the-condition/

(5)  American Family Physician. Hereditary Hemochromatosis: Rapid Evidence Review. 2021. Available from: https://aafp.org/pubs/afp/issues/2021/0900/p263.html

(6)  NHS. Haemochromatosis – Causes. 2023. Available from: https://www.nhs.uk/conditions/haemochromatosis/

(7)  Sonagra A, Zubair M. Laboratory Evaluation of Hereditary Hemochromatosis. StatPearls. 2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK594250/

(8)  European Association for the Study of the Liver (EASL). Clinical Practice Guidelines on Hemochromatosis. J Hepatol. 2023;79(5):1341. Available from: https://pubmed.ncbi.nlm.nih.gov/35662478/

(9)  Johns Hopkins Medicine. Hemochromatosis Treatment. 2025. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/hemochromatosis/hemochromatosis-treatment

(10)        U.S. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).   

Treatment of Hemochromatosis. 2024. Available from: https://www.niddk.nih.gov/health-information/liver-disease/hemochromatosis/

Assessed and Endorsed by the MedReport Medical Review Board