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| Haemochromatosis: the most common genetic killer of folk from the British Isles and their descendants |
Back in 2008, while I was living in America, a big word became a big part of my life: hemochromatosis, pronounced he-moe-kroe-muh-TOE-sis (spelt with an extra 'a' in the UK and Australia).
According to the Mayo Clinic, hemochromatosis is a "condition that causes the body to absorb too much iron from food," commonly referred to as iron overload. Most cases of hemochromatosis are due to a genetic condition, referred to as hereditary hemochromatosis in America (HH), and genetic haemochromatosis in the UK.
The problem with excess iron is that our bodies store it in our organs, especially the liver, heart, pancreas, and joints. This causes damage to those organs and can lead to life-threatening conditions, such as liver disease, heart problems, and diabetes. It can also cause life-limiting conditions like chronic fatigue, severe depression, and loss of libido.
Yes folks, despite the fact that our bodies need iron, and having too little iron can be a serious medical problem, iron is one of those things of which a person can have too much. Unfortunately, iron overload can occur "naturally" in people who have certain genetic mutations that affect a particular gene that plays a central role in regulating iron absorption in the body.
The gene genie
Just to be clear, there are several ways in which a person may develop hemochromatosis other than inheritance, but hereditary hemochromatosis, sometimes referred to a HFE hemochromatosis, accounts for the vast majority of cases.
But why is this big word in my life? Short answer: in 2008 my wife found out she has it. Also, she has suffered greatly from it and there's no cure for it.
Furthermore, numerous members of her family had/have HH. To top things off: iron overload is seriously under-diagnosed in many countries, despite the fact that detection of it, and treatment for it, are relatively inexpensive.
Here's more clarification: not everyone who has the genetic mutations referred to above develops iron overload, and the percentage of those who do — referred to as penetrance — is debated. More recent studies are finding higher levels of penetrance, reflecting the still evolving understanding of how much damage iron overload causes.
Awakening and awareness
Here's what happened after my wife found out she had hemochromatosis: we researched it. We found that it is more common than most doctors have been led to believe, and that early diagnosis can prevent some of the symptoms that were plaguing my wife.
We felt we had to do what we could to increase hemochromatosis awareness. Because she was quite ill at that point I took the lead and posted this on my blog: What Am I Thankful For? A diagnosis of hemochromatosis. That was Thanksgiving Day, 2008.
One of the first reliable source of information we found was the Iron Disorders Institute, a non-profit organization founded to address health issues arising from both excess iron and too little iron. The institute coined the term Iron-Out-of-Balance™ to describe this. Here's what the Iron Disorders Institute home page looked like in 2008, by which time the institute had been on the web for 10 years.
During 2009, as Chey was undergoing gruelling rounds of blood-letting — the first line of treatment when someone has iron overload — we got to know the IDI's leader at the time, Cheryl Garrison. It is hard to think of a person who has done, or imagine a person who could ever have done, more to raise awareness of hemochromatosis than Cheryl.
Apart from anything else, Cheryl wrote the book on eating right when coping with iron overload. Fortunately for us, The Hemochromatosis Cookbook actually came out in 2008 and we got a copy right away. We read the book and everything on the IDI website. Then we corresponded with Cheryl and attended several IDI meetings and conferences.
I learned a lot during this time, from experts in the condition and people struggling with the effects of iron overload and its treatment. The latter, intense rounds of blood draws—technically termed phlebotomy or venesection depending on geography—can be exhausting and may get complicated. For example, veins get scarred and hard to find. In Chey's case she was fitted with a port, an internal medical device, also known as a port-a-cath or implantable port, that lies under the skin and connects to a major vein.
Particularly worrying were the many tales of missed and delayed diagnoses that led to avoidable and needless suffering among patients with iron overload due to HH. This reality was reflected in a 2008 study by the Centers for Disease Control and Prevention (CDC) that found it was taking approximately 9.5 years from symptom onset for a patient to be diagnosed with hemochromatosis. That tracked closely with Chey's experience.
Frankly, I was shocked by the extent to which so many doctors lacked knowledge of, or interest in, iron overload and hereditary hemochromatosis. Indeed, I came up with a cynical hypothesis: the profit-based American medical system was not interested in hematosis haemochromatosis because the treatment, namely phlebotomy, was cheap. On the other hand, if pharmaceutical companies ever developed a pill that could be prescribed to people suffering from iron overload, then there would be billboards to raise awareness of hereditary haemochromatosis all over daytime TV.
Taking action
By the end of 2009 I was read to launch my own efforts to raise hemochromatosis awareness, starting with a Facebook page. To the best of my knowledge this was the first such page on Facebook and I got the URL facebook.com/Hemochromatosis. Bear in mind that I was living in America at the time, hence the spelling.
This page, which I titled Fighting Hemochromatosis quickly attracted a lot of likes and followers (now at 10K and 11.1K respectively). I spent many hours responding to questions from visitors to the page. And I read dozens of disturbing personal stories people shared, further reinforcing my opinion that the medical community was failing, almost completely, to address a distressing and all too often deadly genetic condition.
The hemochromatosis Facebook page also showed me that a greater range of educational materials about the condition was needed. There was also a need to keep information fresh and updated as new developments occurred in the field of hemochromatosis.
To help meet these needs I launched a blog in June of 2010. I called it Celtic Curse, because that is one of the names by which haemochromatosis is known, arriving from its prevalence amongst people with Celtic roots. The first post was not lacking in ambition: The Work Begins Here: Teaching the world about the Celtic Curse. BTW, another old term for hemochromatosis in bronze diabetes, due to the tendency of iron overload to cause diabetes and skin discoloration resembling a tan.
Armed with a Google News Alert to catch fresh stories about haemochromatosis, I began to populate the blog with information. I cross-posted useful articles to the Facebook page and of course used a Celtic Curse account on Twitter to further spread the word. I experimented with paid message promotion on both Facebook and Twitter. (it didn't hurt that during this time I was helping a dear friend of mine advertise his digital advertising software, frequently rubbing shoulders with pioneers in digital marketing.)
Indeed, my involvement in "evangelising" haemochromatosis awareness got to the point where the Iron Disorders Institute and I were discussing a paid role to do the work full time; hence the business card seen here. Unfortunately, making that a reality meant finding funding for such a role.
Reality intervenes
By the time 2011 rolled ground, it was clear that Chey's body had been so heavily impacted by iron overload that she would never be able to work again unless there was some extraordinary breakthrough in medical research. (And such a breakthrough seemed increasingly unlikely given how dismissive I had found most medical professionals to be about haemochromatosis.)
Our prospects were further hampered by the fact that the mortgage fraud crisis and the economic crash caused by the ensuing banking crisis had wiped us out financially. So when I received, out of the blue, a relatively lucrative job offer from a respected security software company, I took that over pursuing a role in the fight against hemochromatosis. In order to maximise my returns on that opportunity, I had to cut down on the time I spent supporting the Facebook page and the Celtic Curse blog.
By 2019, we had made something of financial recovery and Chey's research into medicinal cannabis had yielded some positive results, not as a cure but as an aid to coping with her symptoms. This was facilitated by the fact that the aforementioned job was in California, a stat that has somehow managed to climb up the global economic charts despite letting residents consume cannabis legally. (california is now the fourth largest "country" in the world based on GDP, behind only Germany, China, and the United States itself, surpassing countries like Japan, France and the UK.)
We decided that I would retire and we would move to the UK to be near my mother who turned 90 that year. That's basically what we did; but unfortunately, during the process, which was made extremely stressful by Britain's vicious anti-immigration regime, Chey suffered a subarachnoid haemorrhage. That, and a second haemorrhage during Covid lockdown, further impeded my ability to maintain my online campaign to promote awareness of haemochromatosis.
While I have embraced the role of carer for Chey—caregiver in US parlance, unpaid carer in UK terms—it does require a lot of time and energy. That is why I have begun the process to hand over some of the digital hemochromatosis awareness assets I have generated to an entity that can properly leverage them.
Further hemochromatosis fallout
There continue to be some bright spots as well as dark moments in the haemochromatosis story and this has always been the case. On moving back to my native island, I found that a charity called Haemochromatosis UK is doing excellent work in both awareness raising and support of haemochromatosis patients and families. They have helped push forward valuable research.
I have also found that researchers here are open to the idea that haemochromatosis is not just about discovering someone has too much iron in their system and then bleeding it out. It may be a lot more complex than that. There are indications that haemochromatosis can be a factor in long-term fatigue, despite iron levels being controlled. Better understanding of that might lead to improved treatment options and a higher profile for haemochromatosis in patient diagnosis, given that the UK medical establishment does tend to back efforts to reduce the occurrence of conditions that impose a burden on the national healthcare system.
I am also hopeful that the under-explored connections between fibromyalgia, sexual dysfunction, suicide, and haemochromatosis may get long overdue attention.
Finally, I should mention the one aspect of haemochromatosis that I have gone out of my way to address: hemopause. This is a word I made up to describe a syndrome which is very real, namely the tendency for doctors to dismiss the symptoms of haemochromatosis as menopause in women of a certain age. As you might expect, I made a website about this.
I identified the hemopause syndrome while processing the many accounts of visitors to the Facebook hemochromatosis page, comments on the Celtic Curse blog, and real life encounters. Hemopause arises from the overly patriarchal nature of medicine in the US and UK, and the prioritising of profit over patients in America. It also exemplify what can go wrong when a profession is dominated by males and male attitudes and thus, on the whole, disinclined to take seriously enough the pain and suffering of females. But that's a whole other awareness campaign and website!
Notes
The gene known today as HFE was first identified in 1996 by researchers seeking the genetic cause of Hereditary Hemochromatosis (HH). They found it on the short arm of chromosome 6 in a region known as the Major Histocompatibility Complex (MHC).
(These are all terms I encountered for the first time back in 2009 when there were lots of thing I didn't know about genetics, like chromosomes have arms. Sadly but truly: there's nothing like a loved one getting disabled by a genetic condition to shove you up a learning curve.)
Apparently, this MHC region is home to many genes related to the immune system, including the HLA (Human Leukocyte Antigen) genes. Because the new gene's sequence looked similar to HLA class I genes but was distinct, it was initially named HLA-H (meaning an HLA-like gene).
Unfortunately, the name "HLA-H" quickly became problematic because of confusion with the well-established HLA system. Geneticists thought name could mistakenly lead people to assume HLA-H had a primary function in immunity rather than iron regulation.
Another fascinating thing I learned from researching HH is that there's an official gene nomenclature committee (HGNC). It decided HLA-H needed a unique, unambiguous name that reflected its function rather than just its location. 3. Creating the "HFE" Acronym
The researchers and the nomenclature committee decided to change the name. They created the acronym HFE from the H from HLA, followed by F from the suggestion that it might be related to the F gene in the MHC region (though this was not confirmed), then E from its potential similarity to the HLA-E gene. Thus we have HFE, the Homeostatic Iron Regulator.
