I have Polycythaemia vera ('PV') JAK2+ve. I have read a lot of growing evidence that Allele Burden reduction is a good indicator of management of the condition.
I had originally gone on Peggy but that caused issues. I changed to Javaki a year ago and wanted to knownif that was helping with my AB. It was frustrating to be told that the NHS does not see managing AB as a strategy for MPNs or that this medication is seen as a way of managing AB.
How do we get our Haematology community to keep up to date?
I’m going to bring in our Blood Cancer UK nurses on this one, as from what I understand (having just done some reading) the allele burden question is a live area of debate clinically, and they’ll likely be able to give you a much more informed steer than I ever could!
Although I can’t comment on the clinical side, what I can understand (as someone affected by blood cancer) is that you’ve clearly done your reading, you’ve been through a treatment change that perhaps hasn’t been straightforward, and it’s tough to feel like the evidence you’re seeing isn’t reflected in how your own care is being approached.
Myeloproliferative neoplasms ('MPN') Voice may also be worth a look, as they focus specifically on MPNs and sometimes cover exactly this kind of monitoring debate from a patient advocacy angle: https://mpnvoice.org.uk
And as ever, our Support Line is there if you want to talk any of this through - 0808 2080 888 (option 1) or support@bloodcancer.org.uk.
Thank you for your post. We are sorry to hear about your diagnosis of Polycythaemia vera ('PV') and can understand that through reading about research can understandably pose some questions.
There is ongoing research in the role of JAK2 in Polycythaemia vera ('PV'). Researchers are exploring whether changes in allele burden might help us better understand how the disease is responding to treatment over time.
However, at present, most treatment decisions in routine UK practice are still based primarily on factors such as blood counts, haematocrit control, symptoms, and reducing the risk of complications such as blood clots. This means that while allele burden may be measured in some circumstances, it is not yet routinely used as a treatment target by many NHS haematology teams.
It may be a good idea to ask your team about this more as they may have further information on current or upcoming studies and it is a reasonable question to ask as they will have knowledge of what trials are ongoing within the trust.
Thank you for your response. I understand that the evidence is still emerging but if the NHS declines to collect data on this how will they know if there is a link. The latest information would indicate a change in treatment might help new sufferers have a longer, better quality, of life by starting drug treatment earlier. Ideally Interferon or if not tolerated a JAK2 inhibitor. Thus stopping/ slowing down progression of our condition.
Hello there @DougyW, hope you don’t mind me commenting but I’ve been intrigued by this talk of allele burden when living with Polycythaemia vera ('PV'), which I do like you. I also have a JAK2 gene mutation.
I try to attend blood cancer conferences and watch lectures by specialists in Myeloproliferative neoplasms ('MPN') and then share my notes on the forum. Back in 2024 dear @Rammie18 kindly shared this online lecture which may be of interest to you too: Now part of the polycythaemia vera posse - #116 by Rammie18
I note the specialists in the lecture shared that; “Having a higher allele burden, above 50 %, means more likelihood of progression to Myelofibrosis ('MF' or 'PMF') or other rarer MPNs”: Now part of the polycythaemia vera posse - #119 by Duncan
Doesn’t exactly help in terms of knowing or tracking our overall allele burden, but unless we have a high allele burden we are still at low risk of progression according to these specialists. My allele burden at diagnosis was, I believe, around 1 %.
I suppose an option if you’d like to know your allele burden going forward would be to test for it privately, I know other forum members have their main treatment and checkups via the NHS but can have more detailed tests done via, Bupa, for example. Unsure as to prices for this.
I see dear @Ceri_BloodCancerUK and Nurse Emma have shared advice that I cannot better and would say do give the nurses at Blood Cancer UK a call if you’d like to speak further about the clinical side of your query.
Oh and I’d be very interested in what you learn so do please share here @DougyW.
Thanks for getting back to me. I’m a little fixated on AB as mine was measured at 40%. It just feels the NHS is slow to move with the latest thinking and does not collect the data required that could help with better understanding.
You’re welcome @DougyW and I understand the need to know what we’re living with and ways to offset its risks. Perhaps it’s worth bearing in mind just how rare Myeloproliferative neoplasms ('MPN') are and thus how little research has been done in the grand scheme of things, which might explain how slow the NHS can seem.
It’s the same where I live, using a different massive healthcare organisation to the NHS which also doesn’t check for allele burden… yet. As with other pioneering science for rare illnesses, I imagine with time research will point healthcare organisations towards what benefits our treatments in the most cost-effective way. We can always hope!