Celtic Curse, Mad Cow, and Other Hemochromatosis Risk Factors For Americans

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Here’s a pop quiz to try the next time you see your doctor: What’s most common genetic disease in the Western world? If the answer you get is cystic fibrosis or muscular dystrophy then you need to educate your doctor. The correct answer is hemochromatosis. And it’s not a new answer. Consider how the incidence of hereditary hemochromatosis was described in 1995 in the journal Blood Cells, Molecules, and Diseases: „It greatly exceeds that of better known diseases such as cystic fibrosis or muscular dystrophy.“

Hereditary hemochromatosis is referred to as Celtic Curse because of its high prevalence among people of Celtic ancestry (and Celtic Curse is called genetic heamochromatosis if you’re on the right-hand side of the North Atlantic). However, it is important to note that you don’t have to have Irish or Scottish ancestry to suffer from this condition. And suffer is the right word because, unless you are fortunate to be diagnosed and treated early, hemochromatosis causes a metabolic disorder known as iron overload. Here’s what happens:

The body cannot get rid of surplus iron, so it is deposited both in organs like the liver, the pancreas and the heart and also in the joints, thus impairing their normal functions. Liver cancer, diabetes mellitus, myocardial insufficiency and disorders of the joints are the result. (Source: Heidelberg University Hospital.)

And that’s not all, according to the Canadian Hemochromatosis Society, „Without any kind of intervention, damage to organs from too much iron can eventually result in life-threatening significant diseases.“ These include diabetes and congestive heart failure as well as cirrhosis, with all its complications such as liver cancer and internal hemorrhage.

Despite the fact that this condition can be fatal, and the strong likelihood that over one million Americans have this condition, very few Americans-and woefully few American doctors-know much about it. But before we get to the role that mad cow disease plays in this story, you need to know there is some good news about hereditary hemochromatosis.

The first piece of good news is that iron overload cheap and easy to treat. You simply give blood. If the levels of iron in your blood are too high you might have to give blood more often than the normal maximum of once every 56 days. In that case your doctor can prescribe a schedule of therapeutic phlebotomy (drawing of blood). For some patients this might be as many as once a week to start out, but typically tapering off to less frequent drawings as iron levels come down (a well-administered course of therapeutic phlebotomy will include frequent blood tests to check iron levels).

The second piece of good news about hereditary hemochromatosis is that testing for the condition is relatively cheap. A genetic test for hereditary hemochromatosis costs about $200. Such a test can either be arranged by your regular doctor or you can do it at home, the latter option being preferred by people concerned about privacy or nervous about how insurance companies might respond, now or at some later date, to knowledge of a potentially fatal genetic condition.

Not all cases of hemochromatosis are hereditary. There are non-genetic tests that can point to iron overload from whatever cause and these are also relatively cheap and easy. A blood test sometimes called an iron series profile will measure serum ferritin (SF) and transferrin saturation (TS) or total iron binding capacity. Serum ferritin and transferrin saturation measurements reflect how much iron is in the body and how much is being transported and stored. If the levels are high your doctor should consider drawing blood.

So now let’s get to the risk factors for this condition and the strange role that mad cow disease can play. The science of genetics has clearly established that Celtic ancestry is an underlying risk factor for hemochromatosis, but the condition is not confined to this group of people. Of course, if you happen to know for sure that your ancestry is Celtic and you find you are having heart, liver, or joint problems, then you really should look into hemochromatosis testing if only to rule it out. However, some of the risk factors are more logistic than genetic, though no less important. One of these relates to being a blood donor.

Just to be clear, you can’t „catch“ hemochromatosis through blood donation. The problem is more subtle. Suppose you’re a man who regularly donates blood. This is an admirable thing to do. But what if you happen to have hemochromatosis? Your admirable civic act is also preventing the build-up of iron that your condition would otherwise cause, which raises the question: What if you stop giving blood?

Perhaps you move to a new town and there is no convenient place to donate. If you stop giving blood and you do have hemochromatosis, then the iron will start to build up in your system. The same is true with women when monthly blood loss from menstruation is interrupted. This can happen due to a hysterectomy, some forms of birth control, and of course, menopause.

Indeed, there is something of a menopause-iron-overload syndrome right now because large numbers of women born in the baby boom years of 1943-1963 have been reaching menopause. Owing to a lack of awareness of hemochromatosis in the medical community, and a lack of iron overload screening, women who have hemochromatosis are finding that menopause brings serious health issues that are frequently misdiagnosed and not treated appropriately. The result? A whole raft of iron overload induced diseases that can be crippling or even fatal.

So, unless you know for sure that you don’t have hereditary hemochromatosis it makes sense to have your blood iron levels monitored when faced with any of these risk factors:

1. the prolonged interruption of menstrual bleeding 2. permanent cessation of menstrual bleeding 3. prolonged interruption of a blood donation regime 4. permanent cessation of a blood donation regime

And this is point at which mad cow disease enters the story, specifically at point number 4. As you may know, mad cow disease is the colloquial term for Bovine Spongiform Encephalopathy (BSE). If humans eat beef contaminated with BSE it can cause CJD or Creutzfeldt-Jakob disease which is a very nasty way to die.

While research into the potential for CJD to be transmitted through blood transfusions is still ongoing, American institutions that handle blood donations understandably refuse to accept blood from people who were in the United Kingdom for a total of three months or more during the period 1980-1996. The same applies to people who have lived in the rest of Europe for a total of five years or more between 1980 and the present. This ban started to go into effect as early as 1996 in some parts of America and has been universally enforced since 2000 (or 2002 depending on which sources you consult).

Consider this scenario: You have European ancestry and you have undetected hereditary hemochromatosis, the presence of which you have been masking through regular blood donation, then the blood donation has to stop because you spent time in Europe or the UK. You suddenly face a serious risk that iron overload will start to damage your internal organs.

It should also be noted that other factors can prevent or defer blood donation, including high or low blood pressure, body piercing, Chagas disease, hepatitis, HIV/AIDS, organ or tissue transplants, pregnancy, and sexually transmitted disease (Source: America’s Blood Centers).There are sound reasons for these factors to be considered by the organizations that look after the nation’s blood supply, and giving blood is almost always a good idea if you are fit and healthy. But there needs to be wider understanding of the fact that giving blood can mask a potentially fatal condition, and ironically this condition, Celtic Curse, may start doing damage when you stop giving.

For more information, visit www.CelticCurse.org

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