Awaiting JAK2 mutation test

Worried you might have a blood cancer?
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Hi, I’ll try and keep this brief but I tend to waffle so apologies in advance!

About 3 or 4 years ago a blood test for persistent headaches showed a high haematocrit and RBC count. At the time I smoked and was very overweight (BMI 38) and the GP chalked it up to this and nothing more was said on it. I’ve had bloods since and my haematocrit remained slightly above normal but not as high as that time. I also began donating blood a few years ago every 4-6 months so I’m wondering now if that is why my haematocrit was lower in this period.

I didn’t donate blood for a year until I went in December (lots on my plate with my parents both being unwell) when I was refused because my haemoglobin came back high at 195g/L. They advised I should have a blood test, which I did. This threw up high Hb again (192g/L), high RBC count (5.3 ref range 3.8-4.8), highest haematocrit yet at 0.55, high mean cell volume (104 should be under 101), high mean cell Hb (35.4 should be under 32), high basophil count (0.12 should be under 0.1), and high pottasium at 5.5 (should be under 5.3). The blood film notes a packed film, platelet anisocytosis (my platelet count was 405 which says it’s within range) and hyper segmented neutrophils.

The GP was concerned as I have since quit smoking and lost a substantial amount of weight this year, bringing my BMI down from 38 to 30 and still losing it, yet my results have got worse. A JAK2 mutation test has been sent off.

It wasn’t really explained to me what that was but the blood results say possible myeloproliferative neoplasms and that a JAK2 test should be done.

Obviously I googled this and worked out this is essentially a chronic blood cancer and that they are looking for Polycythemia Vera. On reviewing the symptoms I’m a bit worried as I have a number of them, specifically headaches, fatigue, pruritis and altered sensation and tingling in my extremities. I also have very ruddy skin and sweat a lot and get very easily out of breath, all of which I put down to my weight but haven’t improved as I’ve lost it.

I’m really anxious and it’s been 3 weeks since the JAK2 was sent off with no sign of a result. I guess my main questions are how long do these normally take and if it comes back positive what are the next steps. Is it just an automatic diagnosis of Polycythaemia vera (PV) if it’s positive or will I need a bone marrow biopsy. I’m really anxious about that as I’ve had one before to see if I was a match when my brother has acute leukaemia, and it was very unpleasant albeit decades ago so it might be better now.

I’m 40 and had spent 2024 desperately trying to get healthier with my weight and the smoking, I’ve largely stopped drinking, and now this shaken me. I haven’t had a lot of Comms from the GP and I’m just left wondering what is next whether this is positive OR negative really as clearly something is going on.

Sorry for the ramble. X

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Hi @Dreamdreamer84 welcome, I didn’t feel your post was rambling at all.
In my experience usually clinicians will not give a diagnosis until all the test results are back, otherwise why do the tests.
As you show we are all very unique, complex beings with our own medical histories and all tests are to rule conditions in or out.
I can really understand your concern, especially as you have been ‘googling’, but unfortunately I have found there is a lot of waiting around and not knowing.
Perhaps what you can do is to write down all your fears, questions above and practicalities for when you do see your GP.
Please do let us know how you get on and really do look after yourself, you have done brilliantly with your weight loss.

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Hello there @Dreamdreamer84, welcome to the forum. I’m so glad you found us here, although I’m really sorry you had reason to.

Firstly, although I’m not a doctor, I also wanted to say well done for stopping smoking and losing all that weight, very impressive and so good for your overall health. How does it feel to have achieved all that?

I’m sorry to read that you’re being tested for the JAK2 gene mutation. In 2023 I found out I had this mutation and like you I looked it up too, causing me a lot of anxiety. If I could go back in time I would tell myself to stop googling, but seeing as you’ve understandably been doing so already I would point you towards this great Blood Cancer UK information about the various Myeloproliferative neoplasms (MPN) which the JAK2 gene mutation can be linked to: What are myeloproliferative neoplasms (MPN)? | Blood Cancer UK

While you wait for further results keep notes of stuff you want to ask specialists, any symptoms that seem new or different, and try to find ways to distract yourself healthily. I did a lot of hiking in remote places so I couldn’t anxiously google! Do you have a loved one or two you can share your anxieties with?

This point in between being tested for JAK2 and getting results can take ages, I’m afraid. My dad also got tested for JAK2 and despite being near a university hospital where these sorts of tests often seem to be undertaken his results took months to return! Patience will help, and diverting activities.

You’ve done so well to get healthier, including cutting down alcohol, so I’d say try to keep that in mind and not feel like there’s anything else you can do, or could have done, to change any test results.

Do please keep us posted about how you get on @Dreamdreamer84, and remember patience is a virtue and might help you get through this anxious time with less stress.

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Thanks both. I really appreciate the responses.

Not knowing what things are tends to make me more anxious than reading and understanding it so I’m quite glad I did a bit of googling, it led me here for a start and made me realise this is something you live with, not die from generally. Which is reassuring. It’s not really knowing what’s coming next that’s difficult for me. Everyone’s story of diagnosis and treatment seems different, and (this might sound weird) I’m also anxious about the result being negative and just being left wondering what IS going on if it isn’t this. I generally was already having a terrible time before this happened, my dad has had cancer in 2024, my mum’s health is declining rapidly (dementia) so I’ve had a lot of caring for them on top of full time work, in a job I’m now likely to lose in the next few months due to site closures (having been in my job for close to 20 years this is a huge upheaval and worry). So to have this anxiety on top feels quite overwhelming and I really appreciate your kind responses.

Thanks on the congrats on the weight loss. I feel mentally better, but ironically my fatigue and headaches have been worse over 2024 so physically I feel quite drained in spite of being healthier, I had put this down to everything going on but now I’m wondering. However I have lost 3.5 stone so far (3 to go) and do feel this will benefit me greatly in the long run as I get older.

I just hope this doesn’t take months tbh because with the job uncertainty as well it just feels like too much at once.

Thanks again.

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Oh you’re most welcome @Dreamdreamer84 and I empathise with so much of what you’ve shared. Sounds like you were already holding a lot of stress from situations beyond your control besides your own health concerns, so it’s no surprise that anxiety feels a bit much right now.

I’m sorry that your parents being ill is also on your mind, that’s a lot to deal with. Maybe allow yourself to acknowledge the stress you’re feeling and try to separate it out into its different sources. It helps me not to be so overwhelmed by various stressors when I think of them individually, a little more compartmentally. Don’t forget that worry alone can be exhausting, so try to give yourself a break with all this going on.

Like you, it helps me to read about what I’m facing, but I know for others around the forum it can feel like too much when awaiting these sorts of test results without a specialist’s clarity. All I can say about your JAK2 result is perhaps politely ask about it from who tested you, and let them know you’re aware of what a JAK2 gene mutation might be linked to and that it’s causing you anxiety. They may be able to give you a clue as to how long you might wait for the result, and simply asking might chivvy them along.

Really sorry you’ve got to tolerate this waiting, but try to stay positive—you’ve not been diagnosed with a blood cancer so far.

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Oh @Dreamdreamer84 wow, that is an overwhelming amount to cope with I think you have done so well.
I can understand your conflicting thoughts and feelings about your results.
Gosh your work uncertainty is very anxiety making, I can remember the yearly end of redundancies and 20 yrs in a job is a long time.
I found talking therapy helped me and you GP might assist you.
Please do keep posting how you are doing on here, we are here for you and the Blood Cancer UK support line is there for you on 0808 2080 888
Be very kind to yourself

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