Celtic Curse & Iron Overload

Correction: We recently reported that a  respected group of physicians backs universal testing for hemochromatosis . It seems there may have been some errors in that report because the best reference to universal hemochromatosis testing that I have been able to locate is at the CAP, the College of American Pathologists , not the American Society of Clinical Pathologists (ASCP). As far as I can tell the author of the article we referenced had conflated the two entities when citing the American College of Clinical Pathologists. The other error was in thinking that this was a new call for testing for hereditary hemochromatosis. In fact the documentation dates back more than 10 years according to this NCBI citation in its resources for hemochromatosis , not that the age takes away from the recommendation. In fact, the CAP thought that screening with serum transferrin saturation (TS) was the way to go: "Morbidity attributable to hereditary hemochromatosis (HH) is completely preventab...

Update, October, 2020: Please visit hemopause.org for a more recent account of this syndrome. Back at the beginning of September, 2010, I found out that September was Menopause Awareness Month. This rang a bell, and not just because I had recently written several articles related to Hemochromatosis Awareness Month, which is July. I had also been monitoring traffic on the hemochromatosis page on Facebook and noticing a trend, something I dubbed hemo-pause . Here is the first blog post I wrote about this, edited slightly to improve readability: What is hemo-pause? It's a term coined for a syndrome which afflicts women entering menopause with undiagnosed hereditary hemochromatosis, often referred to as HH for short There are 5 elements of hemo-pause Women with HH may not process iron properly which can lead to toxic iron accumulation. Regular blood loss is the best known means of preventing the toxic iron accumulation caused by HH. Menopause slows and then stops the regular blo...

September is National Menopause Awareness Month and what better way to mark the occasion than getting your genes checked for hereditary hemochromatosis. Why? Because menopause ends the monthly blood loss that can mask the most common deadly genetic condition in America: hereditary hemochromatosis (also called iron overload, Celtic Curse, bronze diabetes, or HH and HHC for short). If you were born with hemochromatosis, sometimes described as a defect of the HFE gene, menopause can cause your body to start accumulating toxic levels of iron, resulting in chronic fatigue, serious joint pain, liver damage, diabetes, depression, loss of libido, migraines, and worse. Why should I get my genes tested for hereditary hemochromatosis? Getting your genes tested for hereditary hemochromatosis could actually save your life! And right now, during National Menopause Awareness Month, there is a way to get your genes checked for HH for $50 off the normal cost. Let me explain why this is so important....

Hemochromatosis can create and/or exacerbate a lot of problems for your body, including but not limited to diabetes, liver disease, liver cancer, heart disease, and joint/spine problems. The last item, which can produce deep and unrelenting pain, is sometimes overlooked in the general "What is Hemochromatosis?" literature. There may be a good reason for this: Raising awareness of a problem--and hemochromatosis is nothing if not a problem--requires a delicate balance between good news and bad news. I am deeply familiar with the good/bad news balance from my decades of work in computer security awareness. Indeed, my current job title is Security Evangelist, and my tag line is "I bring you good news about Internet security, as well as some bad." (FYI, the Celtic Curse website is something I do in my own time and the views and opinions stated here are mine and not those of my employer.) As an example of this form of evangelism, last week my colleagues and I put up a blo...

This is great! A news organization making the connection between Celtic curse, St. Patrick's Day and hemochromatosis . Please share this story with friends (a more complete blog post on this is in the works). The more people know about this condition the better. Celtic Curse is a leading cause of diabetes, liver cancer, joint pain, and heart disease. Yet it is easy to treat, by giving blood. Hemochromatosis Heroes like Dr. Martin L. Alpert , a family practice physician in Santa Monica, Calif., deserve national recognition for insisting that routine physical exams include inexpensive tests of serum iron and iron binding capacity, used together to calculate iron saturation. Why? "because I picked up two or three cases a year for probably the last 25 years." Such a simple way to avert needless human suffering, not to mention the medical cost savings, clearly in the millions at this one practice alone when you consider the alternative, treating 50 people suffering from fu...

The use of blood taken from hemochromatosis patients is a hot topic right now over on the Hemochromatosis Facebook page . The are wide discrepancies in how medical facilities handle hemochromatosis blood. So we want to highlight some useful resources that can help spread awareness of the fact that hemochromatosis blood is fine to donate and bank, just like "normal" blood: Iron Disorders Institute info sheet on use of HHC blood (printable PDF) Centers in your state that use hemochromatosis blood The first item is a great way to educate people on this topic and it is easy to print out. So why not download it, print it up, and drop off a few copies at your doctor's office, health clinic, or blood donation center? The more people who know hemochromatosis blood can be used, the stronger our country's blood supply will become. Consider this: Hemochromatosis patients give a lot more blood than the average citizen, particularly in the early stages of treatment. You c...

Can you die of ignorance? You surely can. Ignorance of hemochromatosis kills countless thousands of Americans every year. Just how ignorant are we of this deadly genetic disorder? Here's a quick test: Have you ever heard of one or more of the following genetic conditions: Cystic fibrosis • Down syndrome Sickle cell disease • Haemophilia Guess what? They are all rarer than hereditary hemochromatosis! Maybe you don't believe me, so you Google "most common genetic disorders" and you find some lists and hemochromatosis is not on them. Why is that? The lists are wrong! That's how widespread the ignorance is. The fact remains, well documented, that hereditary hemochromatosis or genetic haemochromatosis for our British readers, is carried by at least 1 in 10 people in America and probably at least as common in Britain. Want to get academic about it? The number cited by the Iron Disorders Institute , a non-profit with many respected physicians on its board, is 0.043 o...

Imagine the shock of getting a call from the intensive care unit of your local hospital telling you that your brother has been admitted. The doctor says your brother is delirious and combative and "in the throes of advanced alcoholism." Furthermore, he has cirrhosis of the liver, internal bleeding, and ketoacidosis—a medical emergency in which a shortage of insulin can lead to coma or death—from newly diagnosed diabetes. If you've never thought of your brother as an alcoholic such a call could be both shocking and disturbing. Of course, the story gets even more worrying if your brother turns out not to be an alcoholic. But such is the story told in this excellent Washington Post article about an almost fatal failure to diagnose hemochromatosis. Several things struck me when I read this article, in addition to feeling terrible for Jeff Williams, the subject of the story, and his family, who are now living in the shadow of hemochromatosis. For one thing there is an amazing...

President Obama arrived in Ireland today and although the main focus of his visit is diplomacy, he is also set to connect with his Irish roots. He will visit the village of Moneygall in County Offaly, home to just under 300 people, some of whom are distant relatives of the President (as reported by Christian Science Monitor ). Which brings me to the point of this blog post: An Irish heritage can be a wonderful thing, but it can also come with a down side, one that goes by the name of hereditary hemochromatosis, a.k.a. Celtic Curse. Although a lot of websites say that hemochromatosis is rare among people of African descent, this potentially fatal iron disorder is not that rare in people who self-identify as black and/or African American. So the Celtic Curse blog would love to see President Obama get tested for mutations of the hemochromatosis (HFE) gene and share the results of his test as a way to raise the world's awareness of this widely under-diagnosed and potential...

This post is a quick update to let you know we're still here and still working on raising awareness of hemochromatosis, even though the twin demands of the "day job" and coping with HH have been taking up most of our time (that's why there's no fancy image to go with this post). Fortunately, we are not alone, and hemochromatosis sufferers don't have to go it alone. There are places to turn for advice, insight, support, and maybe even a smile or two. Places like My Dog's Teeth, a blog written by Cristi-Rae Baird, a young Canadian HH patient. Here are links to Cristi's site and several other HH-related places you might not know about. They are all worth checking out. The My Dog's Teeth blog: Cristi's personal account of living with hemochromatosis (and a dog). Cristi's in-depth interview with Jillian is well worth reading. The MisAdventures of Bad Boy Kimball : a personal blog from Steve Kimball, writing about coping with hemochromatosi...

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...