Celtic Curse & Iron Overload

A simple genetic test is all it takes to know if hereditary hemochromatosis, the most common genetic killer in America, is in your genes. Your doctor can order this test or you can order the test yourself, direct from a reputable testing service. But that may change. The Food and Drug Administration is seriously considering making some health-related genetic tests prescription-only. In other words, you would need your doctor's permission to get this and other tests. In some cases the results would go to your doctor, not you. We don't think such restrictions are needed. We think they would be detrimental to the public good and increase the cost of health care.  So we have organized a petition to express these views to the FDA. If you agree, please sign the petition . Why Consumer Access to Genetic Tests Matters to You Sadly, many doctors are overworked these days and simply lack the time it takes to stay abreast of the latest developments in genetics. We feel tremendous sympathy...

The following comments were submitted to the Food and Drug Administration by Stephen Cobb, in preparation for the planned meeting of the Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee, said meeting to be held March 8-9, 2011, to discuss issues surrounding direct-to-consumer access to genetic testing. FDA Comment Tracking Number: 80bfb28b These comments represent my opinion as a consumer and as someone whose life has been permanently and negatively impacted by a genetic condition. I think it would be a serious setback for public health in America if you decide to stop responsible companies such as 23andMe providing their current genetic testing services direct to consumers. I have used the services of 23andMe and have been impressed by the level of care and responsibility the company exercises in presenting health-related test results. I see no benefit in requiring a doctor's prescription to get such tests or in placing a doctor between me and the fa...

Defeat hemochromatosis? In one year? Surely that's impossible? Well, the key to defeating hemochromatosis is making everyone aware of the condition. I'm talking doctors, nurses, family, friends, the person seated next to you the next time you fly. Hemochromatosis accounts for more cases of diabetes, arthritis, heart disease, liver disease, depression and suicide than anyone has so far cared to calculate. Why? Because not enough people know enough about it. So how about this: You are one person, but this year you resolve to tell ten people about hemochromatosis, and you ask each of them to tell ten people. We can call it the 1+10 program, and 1+10=11, and this is 2011. By the time 2012 rolls around the world could be as aware of hemochromatosis as it is of cystic fibrosis (a terrible genetic condition, but one which is far less common than hemochromatosis). On a more personal note, one of the many unwelcome things that hemochromatosis can do to a person is slow them down. Would ...

Does drinking coffee or tea with a meal reduce the amount of iron your body absorbs from the meal? That question is the subject of this post and a matter of concern for two groups of people: those with too much iron, like hemochromatosis sufferers, and those with not enough iron, like people with anemia. BTW, that headline is not a typo, it is a clever pun, or so I thought. Apologies if you already spotted the connections but it is based on a great line from the 1980s Melanie Griffith movie "Working Girl" in which Cynthia the secretary, played by the incomparable Joan Cusack, delivers the following line to Mr. Trainer, the handsome executive played by Harrison Ford: "Can I get ya anything, Mr. Trainer? Coffee? Tea? Me?" So I replaced Me with Fe, which is the symbol for iron in the periodic table of the elements. That is most of the pun (perhaps not such a funny one since I felt I had to explain it). The other part is that the great Cusack acting dynasty, including J...

This is the first version of a post that will become longer when I get a chance to write more. As some readers will have noted from my tweets ( follow @CelticCurse on Twitter) the second weekend of October put me in Charlotte, North Carolina, for the Iron Conference, an event put together by the Iron Disorders Institute , an organization that has pioneered awareness of hemochromatosis an other iron-related disorders. The Iron Disorders Institute was co-founded by Cheryl Garrison who has led patient advocacy for hemochromatosis sufferers for over a decade. The Iron Disorders Institute website contains a wealth of medically reviewed information about hemochromatosis, although you sometimes you have to dig a little to find it (there are a lot of PDF files there which you can download). The organization is working on making the information more accessible and is developing a new site specifically for hemochromatosis: The Hemochromatosis Information Center . We strongly recommend you chec...

I want to talk about an aspect of hemochromatosis that I refer to as "The Damage Done." When I read the comments on this blog and on the Hemochromatosis page on Facebook , they bring home to me the fact that there is a whole other side to hemochromatosis awareness. You might even call it the dark side. [But before going any further I want to take a moment to thank everyone for their participation on the site here, and over on Facebook , as well as on Twitter . When you talk about any kind of awareness raising these days, those online numbers count. The more people who follow @CelticCurse on Twitter and who like the Hemochromatosis page on Facebook , the more we stand a chance of exerting pressure on doctors and researchers. And the better we are able to get out the word to the millions of Americans who are at risk but have not yet heard of this most common of deadly genetic conditions.] The Damage Done is a term I use to describe the delayed effects of hereditary hemochromat...

September is Menopause Awareness Month . Regular readers of CelticCurse.org will know that July was Hemochromatosis awareness month. So why is this website--devoted to raising awareness of Celtic Curse or hereditary hemochromatosis (HHC)--talking about menopause? The answer is: hemo-pause . What is hemo-pause? It's a term we coined for a syndrome which afflicts women entering menopause with undiagnosed hemochromatosis. There are 5 elements of hemo-pause

I just found an interesting academic paper from 2006 that discusses the genetic origins and spread of hereditary hemochromatosis (HHC). Was it the Celts or the Vikings, or the Irish Gaels? Of course, depending on your view of life this question might be exciting or boring; and I would be the first to understand if people suffering from "Celtic Curse" found a discussion of the exact origin of this potentially deadly genetic defect to be, how shall I put this? Academic. However, there are some implications in this article for the mission of CelticCurse.org: Saving lives by raising awareness of this condition. In my opinion, one of the main reasons that treatment and diagnosis of hereditary hemochromatosis is inadequate in some countries is 

Describing the symptoms of hemochromatosis can be tricky. As we have noted elsewhere:  “Early signs and symptoms of hereditary hemochromatosis mimic those of many other common conditions, making it difficult to diagnose.” (Mayo Clinic) Adding to the challenge is the fact that not everyone who has HHC exhibits every symptom of HHC. For example, the bronze skin discoloration that gave rise to one of the earliest terms used to describe this condition--bronze diabetes--may be present in as few as 25 percent of patients.

Back when I was writing about hemochromatosis on my personal blog I got a lot of questions about diagnosis. I thought I would share how I tried to answer them. For example, Stacey asked "How was your wife diagnosed?" Here is how I responded:

Here's some good news for anyone trying to understand hemochromatosis, the most widespread hereditary disease in the Western world: a one hour video-taped lecture from one of the world's leading experts on the subject, Professor Martina Muckenthaler, PhD., Head of Molecular Medicine at the University of Heidelberg. What is particularly awesome about this video is a. the English subtitles, b. the professor's superb  pedagogical style as she leads her audience of university students from a simple introduction to hemochromatosis to a detailed explanation of its mechanisms at the molecular level. Even if you watch just the first 15 minutes you will get a good sense of why the world needs to know more about haemochromatosis (the British English version of the spelling is used in the subtitles). Here at Celtic Curse.org we are the first to admit that hemochromatosis is not easy to explain (and we've spent a lot of time trying to explain it). So we were delighted to encounter ...

"Did you know that July is National Hemochromatosis Awareness Month?" That simple sentence is all you need to start a conversation about the Celtic Curse. Some people may respond with "Hemo-what-osis?" and that's when you hook them with "You know, Celtic Curse?" We've struck up conversations like that with lots of different people and so far nobody has objected. Most people are fascinated to learn more about a potentially fatal condition, one that might run in the family, might be killing relatives, and might explain why Uncle Fred had cirrhosis of the liver even though he swore he never touched a drop. (Here's a hint: Uncle Fred might have been telling the truth--while drinking to excess is never a good idea, hemochromatosis can damage your liver in ways that mimic the effects of alcohol consumption.) If you want some talking points, or feel like taking the message to the streets, there are several documents you can download from the Iron Diso...