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

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.


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