The little bit of Irish DNA that could kill you: saving lives this St. Patrick’s Day

by Stephen Cobb on March 14, 2017

St. Patrick’s Day is coming up, a time to celebrate all things Irish, with a few notable exceptions! Consider C282Y and H63D. You’ve probably never heard of them, but these are two genetic mutations that are shockingly common in people of Irish ancestry. They can produce a potentially deadly condition known as iron overload and they are more prevalent in Ireland than anywhere else in the world. One can be proud of having a touch of the Irish in one’s genes, but you should probably make sure it is not these iron overload genes.

Celtic Curse Symptoms (Shamrock by George McFinnigan, Wikipedia)

If not detected and treated, iron overload can damage your joints and organs because your body is not handling iron properly. The medical term for this genetic condition is hereditary hemochromatosis, but it is also known as Celtic Curse. If you have symptoms like those on the right and suspect you have Irish ancestry, you may want to learn more about Celtic Curse.

Celtic Curse comes with some good news, some bad news, and some simple things you can do to prevent and/or treat it. I will lay these out here in the hopes that on this St. Patrick’s Day folks will read up on this surprisingly common condition (as many as 1 in 250 Americans may be impacted – even those who self-identify as non-white). Taking action to learn more about Celtic Curse can result in lives saved, maybe yours or that of a child, parent, sibling, or multiple family members.

Getting tested for Celtic Curse: 1. HFE

The two main tests for diagnosing Celtic Curse are called ferritin and HFE and there are numerous ways to get them done, depending upon your situation, age, doctor, health insurance, and so on. I will talk about HFE first.

HFE is a gene involved in the regulation of iron in the body (our bodies need iron to function properly, but too much can be deadly). One way to find out if your HFE gene is mutated and putting you at elevated risk of loading too much iron is the genetic service called 23andMe. This service sends you a kit that you use to mail back a sample of your saliva for genetic analysis. The results they provide range from ancestry – which could show how much of your genetic history is Irish – to health factors, like the status of your HFE gene or, to be more accurate, HFE genes (because we have two copies of each gene).

If both of your HFE genes are found to be C282Y, then you are in the group most susceptible to develop iron overload, known as “C282Y homozygous.” BUT DO NOT PANIC! Knowledge is power and if you are C282Y homozygous you can immediately take some positive steps. One is to tell your doctor of your results so she can factor this information into your care and treatment (of which more below, under ferritin).

The other positive step you can take right away is to adjust your diet and lifestyle to minimize your risks. There are resources for this below, but basically you don’t want to carry on eating and drinking like you’re the great American writer Ernest Hemingway (loads of red meat, alcohol, and smoking – those things make Celtic Curse symptoms worse). Unfortunately, Hemingway had hereditary hemochromatosis but did not know until it was too late – see this article).

Right now 23andMe costs $159 for both medical and ancestry results (Health + Ancestry, St. Patrick’s Day Offer). I realize this is a lot of money, but the amount of data you get is extensive and increases over time (as genetic science advances the service adds more results).

An alternative way to get your HFE results is ask your doctor to order a standalone HFE test. Tell her you have Irish and/or Northern European ancestry and one or more of the above symptoms. That could be enough to persuade her the test is worth it, “if only to rule out hereditary hemochromatosis.” Describing a family history of those symptoms should be quite compelling, but if your doctor is reluctant, or responds by saying hereditary hemochromatosis is rare, the right response from you is “but it’s not unheard of in someone with my ancestry, right doctor?” Don’t get mad at your doctor – they get very little training on hemochromatosis and it is often from textbooks that are outdated (e.g. we now know hereditary hemochromatosis is not rare, not confined to young men and old women, and it doesn’t always turn your skin orange).

If your doctor is not willing to order an HFE test, you can do so yourself, directly from a lab like this one (the cost tends to be around $200, the same as 23andMe, but bear in mind you only get the results for one pair of genes: HFE). Be sure to read the website of any online service carefully before ordering and check out their BBB rating. An alternative strategy is to get a ferritin test first, as I will now explain.

Getting tested for Celtic Curse: 2. Ferritin

According to the Mayo Clinic: “Ferritin is a blood cell protein that contains iron. A ferritin test helps your doctor [and you] understand how much iron your body is storing.” If your results are high then the doctor will advise a course of treatment to lower it, typically using blood removal, sometimes called phlebotomies, but basically it’s giving blood. You don’t actually need a doctor to order a ferritin test. You can order online then go to a certified laboratory to provide a blood sample.

A ferretin test is not expensive and so your doctor may agree to order one for you if you tell him you are worried that iron overload is causing symptoms A and B from the above list. It might help your case to add: “I have Irish and/or Northern European ancestry so I thought it could be this thing my friend told me about called hemochromatosis.” Do not say you read about this on the internet – doctors are tired of hearing that. If your doctor is not interested, then I suggest you get the test yourself, and take the result to your doctor if it is high.

Helpful resources related to Celtic Curse

There is much more to Celtic Curse than this…and you should consult a doctor either before these tests or after you get your results. Nothing on this page should be taken as medical advice. I am not a doctor, just someone who has studied this for more than seven years, and lives in hope that St. Patrick’s day will help raise awareness of Celtic Curse, so it can be diagnosed early and defeated often.


Shamrock image CC BY-SA 3.0,

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