Hemochromatosis: “Stealth” condition may be the cause of more diseases than previously thought

Posted January 29th, 2019 by Administrator

Two new studies using data from the UK Biobank show that hereditary hemochromatosis is linked to higher rates of diseases than previously thought. The research was led by a team from the University of Exeter in the United Kingdom, the University of Connecticut, and the National Institute on Aging Intramural Research Program.

Hemochromatosis is an inherited condition that causes the body to absorb too much iron from the diet. The excess iron accumulates over time, damaging organs and tissues in the process and potentially leading to disease. In Canada, an estimated 1 in 300 people carry the two gene mutations responsible for the majority of hemochromatosis diagnoses.

In the new studies, published in The BMJ and The Journals of Gerontology: Medical Sciences, researchers looked at a general population of nearly 500,000 adults in the UK and found that 1 in 156 carry the two genetic mutations for hemochromatosis, approximately double the current Canadian estimate.

The study also found that by an average age of 63, 20% of men and 10% in women developed iron overload or diseases such as liver disease, arthritis and diabetes, compared to those without mutations. The data suggested that even more disease developed at older ages. Additionally, the researchers found that 5.8% of all liver cancers in men occurred in those with the two haemochromatosis gene mutations.

Professor David Melzer, from the Universities of Exeter in the UK and Connecticut in the USA, who led the research, said, “The hemochromatosis mutations were thought to only rarely cause health problems. We’ve shown that hereditary haemochromatosis is actually a much more common and stealth disease, including in older people. We now need to test ways of screening and diagnosing hemochromatosis earlier. It’s exciting to think that better care might prevent so much unnecessary disease.”

The good news is treatment is simple. The excess iron is removed by a procedure known as phlebotomy, which is the drawing off of a unit of blood, using the same technique as a blood donation, but with a much higher frequency. Depending on the amount of stored iron, phlebotomies may need to occur once a week or even twice a week until iron levels are lowered to acceptable levels. Once acceptable levels are reached, they are maintained with periodic phlebotomies at the hospital. Many individuals can also maintain their iron levels through blood donations at Canadian Blood Services and help to save other lives in addition to their own.

Canadian Hemochromatosis Society Member, Rayne Kuntz, prepping for a phlebotomy

Raymond Fynes, president of the Canadian Hemochromatosis Society, said, “The results from this study emphasize just how common and damaging hereditary hemochromatosis is, especially among people with a Northern European ancestry. I encourage those who are experiencing persistent symptoms such as fatigue and joint pain, or who have hemochromatosis in their family, to speak with their doctor for testing.”

More information on hemochromatosis, including a self-assessment, screening guidelines, genetics and other resources can be found at www.toomuchiron.ca.

-with files from University of Exeter Medical School Press Release Jan 2019