If you received an invitation to get tested for the “Celtic Curse”, you might think you’d stumbled back in time, or through an enchanted piece of furniture to some fantasy realm. But the condition that goes by this nickname is very much a reality, and many sufferers are walking around without realizing they have it. Its more scientific name? Hereditary hemochromatosis.
What is hereditary hemochromatosis?
Hemochromatosis is a disorder in which too much iron builds up within the body.
The condition can sometimes be caused by having regular blood transfusions for another medical condition, such as sickle cell disease. Red blood cells are rich in iron, but the body struggles to deal with the iron overload. Similarly, people with severe liver disease can experience a buildup of iron, and in very rare cases excessive amounts of iron in the diet can cause hemochromatosis too.
These types of hemochromatosis are known as secondary hemochromatosis.
What we’re interested in, though, is primary hemochromatosis caused by genetic mutations, most commonly in a gene called homeostatic iron regulator (HFE).
The HFE gene encodes a protein that’s vital for the regulation of iron production and absorption in the liver. When everything is working correctly, our bodies absorb about 10 percent of the iron obtained from our diet. When this finely balanced system goes wrong due to a genetic mutation, toxic levels of iron can start to accumulate.
The mutations in the HFE gene are recessive, meaning that you would have to inherit two faulty copies of the gene, one from each parent, to develop hereditary hemochromatosis.
What are the symptoms of hereditary hemochromatosis?
Iron is a vital mineral for the human body, but you can have too much of a good thing.
Having too much iron in the blood can lead to a number of symptoms, including:
- Feeling tired or weak – this can be a tricky one as it’s also a symptom of an iron deficiency (anemia)
- Weight loss
- Joint pain
- A bronze or grayish look to the skin
- Abdominal pain
- Erectile dysfunction
Over time, if left untreated, the iron toxicity can cause more serious complications, such as diabetes and heart failure, and can even be fatal.
Symptoms typically arise around age 40. In women, because of natural iron loss during menstruation and childbirth, the symptoms sometimes do not present until after the menopause.
Who is at risk of hereditary hemochromatosis?
The reason why hereditary hemochromatosis is sometimes known as the Celtic Curse is because it’s particularly common in those with Irish or Scottish ancestry. Because the symptoms can be mild, or mistaken for other conditions, it’s thought a large number of people with the condition are going undiagnosed.
Until a few years ago, this was not considered to be a major problem. However, a pair of studies published in early 2019 raised alarm bells by suggesting that hereditary hemochromatosis quadruples the risk of liver disease and doubles the risk of arthritis as patients age.
The sudden death of 59-year-old Aberdeenshire resident Miranda McHardy in spring 2023, which was attributed to a late diagnosis of hereditary hemochromatosis, has sparked a recent initiative by charity Haemochromatosis UK to run a screening program across this region of Scotland.
Research suggests that one in 113 people in Scotland are predisposed to the disease, but fewer than one in 20 have been diagnosed. To try to combat this, over 25,000 households will soon be offered a free postal genetic test, along with information about the symptoms to look out for.
“If Miranda had known what she had she would still be here now,” said McHardy’s sister Louisa Leader in a statement. “She had chronic arthritis, type one diabetes, heart and liver damage all of which was completely preventable if she had known that she had haemachromatosis.”
Can hereditary hemochromatosis be treated?
There is some good news for anyone who discovers through this screening program that they do, in fact, have hereditary hemochromatosis. Treating the condition before it causes lasting damage is comparatively simple. Listen up, medieval medicine enthusiasts: we’re talking bloodletting.
The safest way to remove the excess iron is to remove some red blood cells from the body. Patients with diagnosed hemochromatosis therefore have blood drawn on a regular basis, while doctors monitor their iron levels to determine the best schedule going forward.
As an added bonus, some of the blood collected in this way can be used for transfusions, like regular blood donation, so patients get a double whammy of feeling better and helping others.
Ideally, treatment for hereditary hemochromatosis will begin early, before the disease has had a chance to cause more serious complications. That’s why coming forward for screening is so important. If you know you have a family history of the disease, or suspect you might and have any of the symptoms, it’s best to speak to a healthcare provider and request a test. You could also seek advice from organizations in your area that raise awareness of hemochromatosis, such as Hemochromatosis.org and Haemochromatosis UK.
The content of this article is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of qualified health providers with questions you may have regarding medical conditions.
All “explainer” articles are confirmed by fact checkers to be correct at time of publishing. Text, images, and links may be edited, removed, or added to at a later date to keep information current.
Source Link: What Is The “Celtic Curse” And Could You Be At Risk?
