Death by Ignorance: Millions of Americans at risk from hemochromatosis, but few doctors know much about it

by Stephen Cobb on June 28, 2014

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Hemochromatosis is the biggest genetic killer in North America. Did you know that? Do you know what hereditary hemochromatosis is? Sadly, ignorance of hereditary hemochromatosis, often referred to as HH, is rampant among doctors as well as mere mortals like you and me, leading to countless thousands of preventable deaths every year. Most of those deaths don’t come with “hemochromatosis” on the death certificate, but HH is the culprit in many cases of death from liver cancer, heart failure, lung disease, diabetes, and suicide.

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

I’m betting you have heard of them, but guess what? They are all rarer than hereditary hemochromatosis! If you don’t believe me you might be tempted to Google “most common genetic disorders” but guess what? Hemochromatosis is not on some of those lists you see in the results. Why? 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 is probably at least as common in Britain. Want to fact check and get academic about it?

Look up the number of people affected in your state, as calculated by the Iron Disorders Institute, a prestigious non-profit with many respected physicians on its board. The factor of 0.043 or 43 people per 1000 is cited, described as “the potential for homozygous or compound heterozygous variations of the HFE gene.” That’s according to this peer-reviewed reference: *Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA, Grummer-Strawn LM, Sampson EJ, Khoury MJ, Gallagher ML. JAMA. 2001 May 2;285(17):2216-22. “Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.”

So why is this ignorance deadly? If you do not treat hemochromatosis it can cause toxic levels of iron to build up in your body and lead to liver cancer, cardiomyopathy, and diabetes, to name but a few of the potentially life-ending complications of this easily treatable condition.

Wait? Did I just say “easily treatable”? Yes, the bitter “irony” of our society’s massive ignorance of this condition is that its ill effects can be staved off through the simple act of — wait for it — giving blood. That’s right, the treatment for hemochromatosis is giving blood.

Sadly, giving blood does not reverse the ravages of hemochromatosis, which is why early detection of this genetic condition is so important. I would think every responsible parent would have their children checked for this condition. Why? Because, with a confirmed genetic presence, you can require your child’s iron levels be monitored in annual checkups (checking ferritin levels).

Most family doctors do not routinely order iron and ferritin tests, even though they are very inexpensive. Our crazy medical billing system in America means that your ferritin levels won’t get checked until doctors suspect you have an iron disorder. And doctors are really bad at spotting iron disorders. So, if your body starts loading iron due to HH, it will probably sustain a lot of damage before doctors figure out what’s going on. Think I’m kidding? I’ve corresponded with thousands of people whose hemochromatosis was missed by multiple doctors. But don’t take my word for it, here’s what the CDC says and here’s a peer-reviewed survey, published in Genetics in Medicine (2002) revealed:

…23% of physician responders were unaware of the population at risk for developing hemochromatosis, the pathogenesis of iron overload-associated complications, and the potential benefits of screening appropriate populations.

In other words, three of the most important things to know about HH were not known by a quarter of doctors. And it gets worse:

Responders were even less knowledgeable about the frequency of hemochromatosis in the Western European populations, the phenotypic criterion for diagnosing hemochromatosis before iron overload occurs, the diagnostic indicators of hemochromatosis, and the preferred treatment of iron overload, on the average.

And in the experience of folks with whom I correspond, there is zero reason to think doctors are more knowledgeable about HH today. A real world study by the Centers for Disease Control in 2007 found that persons with hemochromatosis spent, on average, 9.5 years seeing doctors before one of them correctly diagnosed it (which says a lot about the quality of healthcare in America).

Another sad fact is that, because hemochromatosis is treated by having patients give blood, there is no financial incentive for research into the condition. I have been told this directly by doctors and scientists at the National Institutes of Health: If there was any chance of making a pill to treat hemochromatosis there would be tons of money pouring into research, barring that, forget getting your HH study funded.

There you have it, staggering but true: in 2014, a deadly cocktail of ignorance and venality continues to condemn tens thousands of Americans to pain, misery, and death. Remember that the next time you see your doctor or congressperson. Maybe suggest he or she read this blog post. To read what people with hemochromatosis have to say, visit the Hemochromatosis page on Facebook. Even the simple gesture of liking that page and sharing it with others will help improve awareness.

P.S. Ain’t knowledge grand!

Note: Due to ignorance, many blood banks in America throw away blood from hemochromatosis patients or even charge them for “filtering.” This is infuriating, immoral, and should be illegal. The FDA is quite clear that the blood is good, and so is the NIH.

{ 13 comments… read them below or add one }

Teri Rondo June 29, 2014 at 5:23 am

We have HH in our family. Our Dad passed from a massive heart attack at age 39. There are 9 siblings. We just recently found this out. So far we have 3 that have the double gene. 2 have not been tested. All the rest have 1 gene, but me. They told me I don’t have any. I am a twin which my twin has 2 genes. My oldest sister which has 2 genes just had a massive heart but survived, (almost didn’t). They tell her hers is not active. But I still feel this could of blocked her arteries. She had 4 blocked in the 90%. Could this have been a factor? She has not smoked since she was in early 20’s. She is 68. Sheis still in hospital. Our mom has 1 gene. Don’t know what our dad had. We have alot of health issues in family. Alot of rrheumatoid arthritis. Which I have. I appreciate any advice. Thank You

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Stephen Cobb July 12, 2014 at 5:16 am

Thank you so much for sharing Teri – when people share their family story it helps us gather ammunition to campaign for better diagnosis and treatment of HH. We empathize with your family’s health issues but at least you are getting tested (too many families avoid this). There is a very specific form of arthritis associated with HH. There is a lot of detail on this page (which is pretty graphic) but may help you out: http://www.rheumatologynetwork.com/articles/identifying-and-managing-hemochromatosis-arthropathy

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BARBARA ANN GALLAGER June 29, 2014 at 9:12 am

THANK YOU FOR OPENING THE DOOR OF IGNORANCE . I have HH so do my 3 children early detection is very important

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Mark June 29, 2014 at 1:11 pm

I learned earlier this year that I have hereditary Hemochromatosis when I entered the hospital with congestive heart failure. My ferritin level was 26,205. Today I’m below 4,900. I give 250 ml of blood twice a week.

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Stephen Cobb July 12, 2014 at 5:00 am

WOW! My wife and I think that is the highest ferritin “score” we’ve ever heard of. How are you doing now? And might we ask how old you are? It is frankly amazing that your levels got that high without a doctor noticing. Good luck with your treatments!

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carol amick June 30, 2014 at 6:36 am

Appreciated this article, but failed to mention the high cost of the blooding that insuraance does not cover hampers HH sufferers, as well as the fact that blood centers will not take HH blood.

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Stephen Cobb July 12, 2014 at 4:58 am

Good point Carol – the handling of HH blood in some places is atrocious. However, it is not the same everywhere. Since 2001 any blood donation service has been able to take HH blood IF they apply for a variance from the FDA. Sadly, tragically in my opinion, far too few places have done this, hence the cost to many HH sufferers. I did highlight one organization that has started accepting HH blood on the Facebook Hemochromatosis page: http://facebook.com/Hemochromatosis

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Elize van der Merwe August 14, 2014 at 5:29 am

I found out a year ago that I have HH. I live in South Africa and their are no HH awareness the doctors also know very little about HH. I would like to start a HH awareness campaign where do I start. I got my info from the internet on what to do and what not

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Victoria Dee June 27, 2015 at 11:43 pm

Hi Elize, I’m in CT and my GP picked up on it in 2012 when I had bloods done to check for Hereditary Pernicious Anaemia (my Mum has it). Haematologist gave me a gene test and I give blood at BTS (which they use.) Up for raising awareness.

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Stephen Cobb July 19, 2015 at 11:31 am

We appreciate you sharing your experience Victoria, and your help with awareness raising.

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Ginger Crowley May 25, 2015 at 12:03 pm

Thank you for writing this article. It should be included on every HH website. It cuts to the heart of the problem: the lethal combination of ignorance and denial. The denial is not just on the medical community’s part, by the way. I have encountered denial on the Irish’s part. They don’t want to know because they think they can cheat the odds or they simply want to continue a lifestyle that they would have to moderate of they tested positive. I should know. I was diagnosed with HH over four years ago and my two brothers refuse to get tested (despite the books, articles and testimonials I have and continue to send them.)

Keep up your good work. Let me know if I can help.

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Stephen Cobb July 19, 2015 at 11:32 am

Thanks for the input Ginger. Much appreciated!

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Julie Edwards McCartney July 19, 2015 at 3:35 pm

I wrote on the Article you put on the Internet today, July 19, 2015!! I am a RN, of 40 plus Years…1/2 Irish…was just Diagnosed March 2015 with “Hemochomatosis” in my 60’s!! I had never heard of this “Excessive Iron Overload Disorder!!” I was STUNNED!! and THANKFUL!! and have been educating myself, re: this Genetic Disorder!! I am “donating” 500cc of Blood weekly (followed by 500cc of IV fluids!! To assist with fatigue and Nausea I experienced afterwards!!) I am Retired…my Mission!! Is to EDUCATE AND BECOME INVOLVED IN TESTING AND TREATMENT!! My “Iron Level” was 4,000, and has decreased 1,500 points in three months!! I will continue weekly treatments…for Months. I am under the care of Hemotologist/ and GI MD’s!! I am “feeling” much more” alert”, “my Arthritis”…(which was Iron in my Hands, Knees, etc) has nearly “Resolved!!” I feel like “I required Glasses all my Life…Finally “Have Eye Glasses”…and have “Clear Vision for the 1st time!!!” That is how Powerful removing “Iron Overload” has been in my Life!!” I do regret that I was not Diagnosed many years ago!!! I am moving “Forward” now, not looking back!! Now, I am using my RN Degree…as I said, TO EDUCATE !! I, hope to see “Laws Changed” re: Throwing my “Iron Rich AB (rare Blood type) In the Garbage each week!!!” Thank You for Educating!! Julie RN!!

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