Tag: elevated haemoglobin

Feeling Wired… wee, sleekit, cowrin, tim’rous beastie…

~ quantumdreamer ~ Leave a comment

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But Mousie, thou art no thy lane,
In proving foresight may be vain:
The best-laid schemes o’ Mice an’ Men
Gang aft agley,
An’ lea’e us nought but grief an’ pain,
For promis’d joy!

Still thou are blest, compared wi’ me!
The present only toucheth thee:
But Och! I backward cast my e’e,
On prospects drear!
An’ forward, tho’ I cannot see,
I guess an’ fear!

Robert Burns

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Well I am all wired up to a polygraph. Looks like it measures heart, noise in the trachea, air flow in the nostrils and the saturation of oxygen in the blood. It is not the latest spec machine and I don’t want to pay twenty euros for a user or technical installation manual. The temptation to take it apart is high but I will resist.

Over the last few months with nearly fifty medical appointments so far this year I have felt a little like a lab rat / mouse. Last time I was like this was around 1994 when they did shit loads of tests to figure out my low B12 and high haemoglobin. They gave me a radio-tracer labelled B12 sample and wanted me to collect my piss. I was off on a night out with the lads, by the end of the night my rucksack was very heavy with ~ a gallon of Tennent’s Extra flavoured sample. They told me to collect it all!! They were taking the piss.

I figured that I was a part of some research project at St Thomas’ so I played along. Perhaps I helped someone’s dissertation.

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I learned today that a diagnosis of moderate to severe sleep apnoea means that you have to stop driving and tell the DVLA!! You then need to get the problem under control.

They say that it can affect concentration. I’ll bet my level and extent of concentration against the bulk of the population. I’ll win.

Either the results will be invalid due to the apparatus falling off during the night, or they will be “normal” or they will have some anomalies due to my decade of dreaming practice and two and half decades of meditation. The first two cases are easy.  The third case might raise an eyebrow; be seen as an artefact or suggest a re-test.

All these scans and tests are getting a bit boring. I would much prefer to be in the control room watching the acquisitions than on the slab in the middle of a polo mint.

I have often wondered on the mentality of those able to torture mice. I did a team development course for those operating a gene related animal house {mice} at the University of Cambridge. They seemed to be regular people a bit annoyed by the unrealistic expectations of the last minute dot com academic demands. The academics wanted the animal house “sorted out”. I suggested to HR that it was the academics who needed to learn team work and to develop their interpersonal skills, which were poor.  I offered to do a course for them. Needless to say my offer to “Olympus” was not taken up. I would have had no problems calling out a pompous Cambridge prof or two.

I take the device back on Tuesday morning before my colonoscopy. We shall see {perhaps} what is recorded thereupon. The fun-filled and action-packed life goes on…

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Secondary Polycythaemia and Medical Buses

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When you wait for a bus isn’t it always the case…

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In the near future I again have a clustering of medical appointments. There are three the week after next. One of these is with an orthopaedic surgeon. Then later I get to see an anaesthetist and then the colonoscopy chimney sweep. After that it is prostate fun and games. Since it was a few years since my “chimney” was last cleaned, I anticipate a few polyps. Which will be excised and sent for biopsy.

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My Haemoglobin levels are at around 17.5 or higher.

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The blood results for HFE mutation have been sent to the GP and only they can give them to me. It is probably safe in my case to give them without narration. I won’t freak out. This is France and protocol is protocol. If negative {normal} then the consultant rheumatologist suggested JAK poly screening to explain the high haemoglobin, polycythaemia (erythrocytosis) results. If HFE mutation positive then I will be giving a pint a week of blood as haemochromatosis induction therapy. Because I have had cancer this blood will probably go down the drain, it is not good for vampires.

“Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm.”

The default diagnosis of secondary polycythaemia due to historical smoking, early stage hypoxia due to COPD and perhaps early adolescent altitude is the most likely. The JAK 2 screen is for some rare but serious stuff. Myeloproliferative neoplasm is not a nice phrase. It is a dot the Is and cross the Ts test. It needs a specialist prescription.

The blood results have not found a simple, normal, explanation for my osteoporosis.

The causes can be attributed to the Holy Trinty: Fat Fags and Booze. Although I am technically obese, I am also muscular, there is meat and lard. The GP may be able to shed some light on what is going on when they give me the HFE gene results. My calcium and phosphates are normal. They may suggest more tests, specifically liver, looking for fatty / alcoholic liver etc….

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I am not expecting things to be tied up or solved.

Sometimes it is just one of those things.

I guess the most important thing is that there will perhaps be clarity on the replacement hip situation. The if, where and when. Some decisions will need to me made, some preparation needed. There may be wood to chop and a gardener to secure for the time(s) when I am out of action.

Looks like a summer of fun!!!

Genetic Counsellors and Cans of Worms

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I learned a new phrase today “genetic counsellor”. Apparently, at least in Canada, such things exist. I have been recommended to have the HFE gene test to see if I have hereditary haemochromatosis (HH). This for completion. Back in 1994 I visited this high haemoglobin “space” and was bled regularly at St Thomas’. Retrospect suggests that I may have had an ongoing health condition which was missed back then.

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They took an armful each time. 

This HFE mutation would provide a benign explanation for my raised haem and ferritin levels. My ferritin levels have been increasing with time over the last four years. I don’t really have many of the symptoms associated with the genetic disease. It is linked with the less benign polycythaemia. Which would require a wider more substantive gene panel test, so-called molecular oncology. The authorisation for this testing is probably reserved for specialists. Iron overload is not without consequences. It can “cause” cancer or be correlated with it. Medical literature often blurs correlation with cause.

The problem with all this new-fangled gene testing is that it can open a can of worms

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Needless to say, the genetics are complex.

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I would be a mutant of sorts…

The next stages are Iron MRI and/or liver biopsy. The latter does not sound like much fun!!

Liver disease is possible maybe even likely, but I am largely asymptomatic. My enzyme work was ok.

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The next stage of inquiry would be to look for myeloproliferative neoplasms which are rare, not lottery winning rare, but rare enough. Search of JAK 2 and other related things starts increasing the price. JAK 2 can mutate.

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“Mutations in JAK2 have been implicated in polycythemia vera, essential thrombocythemia, and myelofibrosis as well as other myeloproliferative disorders. This mutation (V617F), a change of valine to phenylalanine at the 617 position, appears to render hematopoietic cells more sensitive to growth factors such as erythropoietin and thrombopoietin, because the receptors for these growth factors require JAK2 for signal transduction. JAK2 mutation, when demonstrable, is one of the methods of diagnosing polycythemia vera.”

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The thing is looking closely at most people my age the chances are that you will find something which has gone wrong.

The French sites suggest that some kind of follow up is warranted because of my Iron status.

Not sure what if anything the GP will recommend….

The osteoporosis situation seems simpler to treat with some pills, supplements and vitamins. But could have an Iron cause.

Given that the haemoglobin situation has been ongoing for, perhaps, thirty years it seems unlikely that any new unpleasant things have suddenly taken hold. But the ferritin level has doubled since 2021.

There is part of me that thinks that I just let this all drop…The osteoporosis might have enabled the fracture of my femoral neck six years ago. I have perhaps been living with it since. Simple answer is to not fall over.

A few more pills is no big deal however…

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hereditary haemochromatosis – regularly being bled.

Not HH – Iron MRI / Liver biopsy —

Liver disease – it depends on what – treatments in absence of virus are usually diet and no booze.

Something fancy and esoteric – myeloproliferative neoplasms – massive complex can of worms

The French sites suggest that some kind of follow up is warranted because of my Iron status.

What is inside the can…?

White Coats – DNA – Gene Testing – Lab Instrument Dream – 03 -06 -2025

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Here is last night’s dream.

It opens in an ethereal very white laboratory setting in which there are no walls. There are people milling about in white laboratory coats. Most of these are young. Some have pencils and pens in the coat pocket. There is a prevalence of spectacles. I am sat at a large white desk upon which are computer terminals linked into the DNA sequencer machines. I am with two younger women both wearing white lab coats, neither of which are done up. They have name-identity-security cards on deep blue lanyards around their necks. One is blond the other dark haired. They are younger than me and “official”. I am dressed in civvies, black jeans and a black cashmere jumper. My hair has a fresh buzz-cut.

The dark haired woman asks me how the genetic testing was authorised. I explain that my haemoglobin levels are high and that I have a large excess of ferritin in my blood. She nods and gestures for me to open the files on the computer in front of me. These files contain my full DNA results and parts where the study has zoomed into specific genes of concern regarding my blood and health. Before we get to the results there is a screen showing who has accessed these files. There is a list of health professionals in normal black type. Then in a box ringed in bright red and backlit is one saying D. Someone who I once was acquainted with. The files access log says that he has accessed these files illegally and without proper authorisation on a number of occasions. He has been illegally monitoring my test results. The woman asks me if I know who it is. Yes. Somehow, he has contrived illegal access. He has been snooping on my genetic testing and passing them on. It is illegal, he has been unlawful.

The scene changes to an ultramodern biochemistry laboratory on an upper floor. There are wet benches, fume hoods and instrumentation suites. Everybody apart from me is decked out in white lab coats. They are all younger than me and exude and air of quite professionalism going about their business. I enter a glass doored laboratory instrumentation suite. At the “welcome” desk there is a young man and a young woman. He asks how he might help. I explain that I need to run a sample. He shows me into to their latest machine. It is a hybrid mass spectrometer-NMR- separation machine. They are convinced that I know little to nothing about science instruments and mass spectrometry in particular. I say that before I run my sample, I need to assess the signal to noise ratio of the instrument. I inspect it.

When I am ready, I inject my sample using a micro-litre syringe into the septum at the spectrometer inlet. The results will be available in a few hours. Everyone thinks that I am a pleb, who knows nothing. The next day I return and ask to run the sample again. I have left it on the bench to oxidise overnight and that will give me an added insight into the chemical composition. The man is a bit reluctant but lets me run the sample again.

The dream ends.

High Haemoglobin High Ferritin Normal TSAT – More tests?

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Following on from the visit to the rheumatologist I have had my ferritin and transferrin saturation levels tested again today. This rules out hereditary hemochromatosis so no need for HFE genetic testing.

It does not rule out liver disease though my liver enzyme tests were good a month ago. It can be due to chronic inflammation, which I have. It can be due to alcohol misuse but the level has gone up and I am completely on the wagon for four months now. She suggested JAK poly gene screening for myeloproliferative neoplasms (MPNs) to help explain the polycythaemia and to definitively rule out these rare malignancies. The GP said that this was very specialised testing and would need a haematologist to authorise. We will see the wife’s haematologist next week.

As is so often the case one test instead of closing options / diagnoses, opens others. My upcoming sleep apnoea study might add another clue to the mix.

In 1994 I was bled on a regular basis at St Thomas’ hospital to try to address the high haemoglobin levels. They took several “armfuls” … But memory says this increased the haemoglobin levels a few weeks after they pulled the pint.

Maybe I should buy some leeches and have a DIY approach.

I have just found out that I also have mild osteoporosis in the hips which is fairly normal aged related and lower bone density in my spine, osteopenia, slightly more advanced than normal for my age.

Must get a hamster wheel or a challenge reward maze from Amazon…

More questions…

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None the Wiser

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Not long back from a visit to Saint Hellier Jersey where I saw a consultant rheumatologist. They suggested that there is no extra immune-stuff active in my skeletal problems and that most of my “random” inflammation events are probably so-called gout.

There is a lot to unpack mentally and in terms of feelings. There is a question, “did I really live like that once upon a time? Really?”

In the space of a few weeks, the consultant was the second to note and comment upon my recently measured elevated haemoglobin levels. Which could be due to my prior smoking, my COPD, genetic causes or living at elevations during early adolescence. Others causes like blood cancer are very unlikely.

In nearly every medical situation the fab three are rolled out as the most likely cause. The trio of obesity, booze and fags are the go to default diagnosis. In the UK there is a bit of fetish about BMI. It is a well-used mantra. This trio may have a confirmation bias effect. I am / have been triply holy.

In the 1994-5 when the people at St Thomas’ London were looking into the haem thing it was put down to smoking. They bled me on a regular basis to try to drop my haemoglobin levels. It was a part of a whole host of “lab-rat” tests that I had done back then. I was a very cooperative rat, happy to be in anyone’s research programme. This probably rules out esoteric causes.

The most surprising thing with the consultant was their surprise that there was no bone density follow up after me falling and breaking the head / neck of my femur. I fell only from standing in the kitchen at the age of 55. The drop was well under one metre. The rationale was that this was a major break from only a small fall. There could have been something wrong with /weakening my bones. I am male and osteoporosis or osteopenia is uncommon at that age. They were surprised that it was not investigated. They may suggest some follow up tests in a letter.

They were also surprised at the severity of my hip osteoarthritis and the near complete lack of motion, sideways.

Here is something that I may have picked up. When people note or examine me, they perhaps transfer some imagining as to how it might feel / affect them if they were in the same condition. They may see a bleak future.  I have had a number of people talk about quality of life to me. Given my flexibility and pain, it might inhibit their current life-style in which they “do” stuff. There is a bit of a shudder. “What if that happened to me?” The advice is to have a bilateral operation so as to have “quality of life”. My serene quality of life far from the loud and maddening crowd may not appeal to them. Quality of life is very subjective.

So, does one cling and try to maintain an active quality of life according to the common view, feeling miserable every time life stops you from doing what you once did and feel you ought to do?

Or do you simply adjust to your new reality, to come to terms with your lot?

Philosophically I suspect that modern medicine is bad in a Darwinian sense for human evolution. The weak and the sick can live and breed. They can live to old age. People have children at a later age increasing the prevalence and propagation of birth defects and damaged genes. Humanity will live longer but it will be sicker and less healthy.

Sounds a bit eugenic…but we are seeing the “success” of modern medicine impinge of health services and economies.

If karma has caused me to have badly arthritic hips, is it wise to try to outsmart karma by having a modern operation?

Ok, I was born in a time where such things are possible but is that a temptation of our times, trying to have life on my own terms? Maybe I should simply settle my karmic debt and endure quietly without complaining?

I am speculating that maybe I need to stop taking any medication whatsoever. It is not making me happy this endless merry-go-round.

As I said, I am none the wiser…