Haemochromatosis: 'Most common' genetic disorder test call

This is the study that this article is based on.
Abstract
Objective To compare prevalent and incident morbidity and mortality between those with the HFE p.C282Y genetic variant (responsible for most hereditary haemochromatosis type 1) and those with no p.C282Y mutations, in a large UK community sample of European descent.

Design Cohort study.

Setting 22 centres across England, Scotland, and Wales in UK Biobank (2006-10).

Participants 451 243 volunteers of European descent aged 40 to 70 years, with a mean follow-up of seven years (maximum 9.4 years) through hospital inpatient diagnoses and death certification.

Main outcome measure Odds ratios and Cox hazard ratios of disease rates between participants with and without the haemochromatosis mutations, adjusted for age, genotyping array type, and genetic principal components. The sexes were analysed separately as morbidity due to iron excess occurs later in women.

Results Of 2890 participants homozygous for p.C282Y (0.6%, or 1 in 156), haemochromatosis was diagnosed in 21.7% (95% confidence interval 19.5% to 24.1%, 281/1294) of men and 9.8% (8.4% to 11.2%, 156/1596) of women by end of follow-up. p.C282Y homozygous men aged 40 to 70 had a higher prevalence of diagnosed haemochromatosis (odds ratio 411.1, 95% confidence interval 299.0 to 565.3, P<0.001), liver disease (4.30, 2.97 to 6.18, P<0.001), rheumatoid arthritis (2.23, 1.51 to 3.31, P<0.001), osteoarthritis (2.01, 1.71 to 2.36, P<0.001), and diabetes mellitus (1.53, 1.16 to 1.98, P=0.002), versus no p.C282Y mutations (n=175 539). During the seven year follow-up, 15.7% of homozygous men developed at least one incident associated condition versus 5.0% (P<0.001) with no p.C282Y mutations (women 10.1% v 3.4%, P<0.001). Haemochromatosis diagnoses were more common in p.C282Y/p.H63D heterozygotes, but excess morbidity was modest.

Conclusions In a large community sample, HFE p.C282Y homozygosity was associated with substantial prevalent and incident clinically diagnosed morbidity in both men and women. As p.C282Y associated iron overload is preventable and treatable if intervention starts early, these findings justify re-examination of options for expanded early case ascertainment and screening.
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Open access at https://www.bmj.com/content/364/bmj.k5222
 
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DokaGirl said:
Everyone should be tested for this. This condition seriously effected a friend who struggled for many years before a diagnosis. Sadly with the lengthy delay in testing damage was done.
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Especially since it's cheap and easy to do a basic screen.

Most people here should have been tested for iron levels because uncontrolled haemochromatosis is one of the conditions that should be excluded before making an ME/CFS diagnosis.

But if your doctor hasn't done at least a standard iron panel you may want to ask for one, just in case.

All the women amongst my friends and family have had their iron levels checked at a relatively young age, either during pregnancy or because their doctors suspected anemia/iron deficiency. Two of us were picked up as having haemochromatosis that way.

On the other hand, almost none of the men I know have had their iron checked, ever, presumably because of a preconception that men are less at risk of anemia since they don't menstruate and on average eat more red meat than women.

If you have your genetic data you can check for yourself if you have the main genetic risk factors. No panic if you do, not everyone with them develops haemochromatosis, but you would want to get your iron levels monitored more frequently so you catch it early if iron overload does develop. Treatment is usually straightforward.

C282Y (rs1800562) A is the risk allele.

H63D (rs1799945) G is the risk allele.
 
@Ravn, I noted on the other forum, that after treatment your blood is destroyed as hazardous waste; likely due to ME, correct? (Of course, your blood might have to be destroyed re this procedure anyways.)

Ever ironic that although pwME are treated as mentally ill, we cannot donate blood or be organ donors. The schizophrenic crappola of governments.
 
DokaGirl said:
@Ravn, I noted on the other forum, that after treatment your blood is destroyed as hazardous waste; likely due to ME, correct? (Of course, your blood might have to be destroyed re this procedure anyways.)
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In New Zealand – different countries have different rules – if you only have haemochromatosis but are otherwise healthy your blood can be used as a blood donation.

At the time of my haemochromatosis diagnosis I was still (wrongly) thought to have MS, so my blood was originally rejected because of MS and they've just kept the hazardous waste warning sign on my file ever since.

However, in New Zealand they do reject ME blood, too. So ME or MS, same difference: I'm officially a hazard :eek::D
 
Ravn said:
Especially since it's cheap and easy to do a basic screen.

Most people here should have been tested for iron levels because uncontrolled haemochromatosis is one of the conditions that should be excluded before making an ME/CFS diagnosis.

But if your doctor hasn't done at least a standard iron panel you may want to ask for one, just in case.

All the women amongst my friends and family have had their iron levels checked at a relatively young age, either during pregnancy or because their doctors suspected anemia/iron deficiency. Two of us were picked up as having haemochromatosis that way.

On the other hand, almost none of the men I know have had their iron checked, ever, presumably because of a preconception that men are less at risk of anemia since they don't menstruate and on average eat more red meat than women.

If you have your genetic data you can check for yourself if you have the main genetic risk factors. No panic if you do, not everyone with them develops haemochromatosis, but you would want to get your iron levels monitored more frequently so you catch it early if iron overload does develop. Treatment is usually straightforward.

C282Y (rs1800562) A is the risk allele.

H63D (rs1799945) G is the risk allele.
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And you have to have both
 
Slide 66 from my presentation at EUROMENE : It shows the percentage of heterozygous / homozygous SNPs on my cohort of 72 people (includes though ME/CFS patients, Post-finasteride patients, post-accutane patients and fibromyalgia patients) on the Hemochromatosis gene (HFE) listed by @Ravn :

aaa.png

You can see a number of SNPs being grayed out. I specifically mentioned that this work is available to any interested researcher.

Also part ona previous slide i specifically mentioned that ME/CFS patients should be screened for Hemochromatosis.

These SNPs reside in my computer for quite some time now. Oh well.
 
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I had a high ferratin when I was younger. No one said anything.

It wasn't high later. I guessed maybe they were taking enough bloods at the time that if it was hematochromatosis, that was enough treatment.

Hasn't been checked in a long time.

You'd think iron tests would be pretty standard for anyone with a chronic illness, as anemia of chronic illness is also a thing.

I thought I'd previously read that they didn't use the bloods taken from hematochromatosis patients here in the US, but FDA says people are confused about this but they always did.
https://www.fda.gov/BiologicsBloodV...ionsaboutBlood/DonatingBlood/#hemochromatosis
 
Oddly enough, once it became apparent that I was not simply recovering from the flu, the first thing my GP suspected was haemochromatosis. This was in the early 80's prior to the designation of "CFS," and if the neurologist I saw a few weeks later had ever heard of "ME" he certainly didn't tell me about it.

By chance, my family had recently moved to small town in California with a fairly sizable Scandinavian population, so that's likely why my GP was familiar with haemochromatosis. I happen to have a Scandinavian surname, so that's what made him think it might be affecting me.

I'm sure it was just a simple test of iron levels in the blood, but it was negative.
 
Ravn said:
Especially since it's cheap and easy to do a basic screen.

Most people here should have been tested for iron levels because uncontrolled haemochromatosis is one of the conditions that should be excluded before making an ME/CFS diagnosis.

But if your doctor hasn't done at least a standard iron panel you may want to ask for one, just in case.

All the women amongst my friends and family have had their iron levels checked at a relatively young age, either during pregnancy or because their doctors suspected anemia/iron deficiency. Two of us were picked up as having haemochromatosis that way.

On the other hand, almost none of the men I know have had their iron checked, ever, presumably because of a preconception that men are less at risk of anemia since they don't menstruate and on average eat more red meat than women.

If you have your genetic data you can check for yourself if you have the main genetic risk factors. No panic if you do, not everyone with them develops haemochromatosis, but you would want to get your iron levels monitored more frequently so you catch it early if iron overload does develop. Treatment is usually straightforward.

C282Y (rs1800562) A is the risk allele.

H63D (rs1799945) G is the risk allele.
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Sorry, what results on the iron panel are indicative of hemochromatosis? I googled and it told me they’re looking for ferratin but my iron panel only has HCT (hemocrit), hemoglobin and RBC.
Might be it will make sense to me after a rest.
 
WillowJ said:
I had a high ferratin when I was younger. No one said anything.

It wasn't high later.
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Ferritin can be temporarily raised due to other reasons such as inflammation so a single elevated test rarely rings any alarm bells unless it's totally off the scale high. Usually they just retest a bit later and if that test is fine there's unlikely to be a problem.
Forbin said:
the first thing my GP suspected was haemochromatosis. This was in the early 80's
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Wow, that doctor was on to it to even suspect haemochromatosis way back then. Here, haemochromatosis really only came onto doctors' radars after the development of the genetic test, in the 90s(?). In fact I had iron tests before then that were higher than you'd expect in a young menstruating vegetarian woman and the doctor was delighted with them at the time, I was one of the few women in his practice not borderline anaemic!
Subtropical Island said:
Sorry, what results on the iron panel are indicative of hemochromatosis?
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My regular iron panel measures the following: ferritin, serum iron, transferrin, and transferrin saturation %. The doctor is most interested in ferritin and transferrin saturation %.
 
Ravn said:
Ferritin can be temporarily raised due to other reasons such as inflammation so a single elevated test rarely rings any alarm bells unless it's totally off the scale high. Usually they just retest a bit later and if that test is fine there's unlikely to be a problem.
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That's good to know.
It was high for about 2-3 years, iirc, but I don't know that it was amazingly high. It might have been early on in being ill, so inflammation could have been a good cause.
 
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