Results for exon

I'm in the UK so probably not good to phone you, I just thought I bet your thinking I can understand why she's changing! I don't trust him any more, he's in helpful, he doesn't even recognise the symptoms, he just compares me to others that have got higher levels, it's a joke that when I have my bloods drawn the phlebotomist says every time, your bloods are thick do u have a cholesterol problem or are u polycythemia? They know straight away, my heamotologist has said that's because they can't be using the right needle or they are are not doing it correctly, people with higher blood than yours can get their blood drawn okay? Oh and I'm I 3 or 8 I bet I'm 8 and he didn't have my results at hand. X

Hey Julia... Not sure what to tell you, but maybe you should get a second opinion... I am just finding out that my jak2 exon12 mutation test may have been a repeat of the jak2 v617f, the first one I had done lol.... I won't be happy if that was the case lol... 

That's not good about your JAK exon 12 x

Hey Julia.... 

True... I won't be happy, that is for sure... But read what this expert says in-regards to diagnosing a workup for PV, especially the part concerning whether an exon 12 mutation test is warrented...

"Scenario 3: JAK2V617F negativity associated with subnormal serum Epo level

If the patient under evaluation is negative for JAK2V617F, then the possibility of a JAK2 exon 12 mutation is entertained, but only in the presence of subnormal serum Epo level. This is because JAK2 exon 12 mutations are almost always associated with subnormal serum Epo level. If both JAK2V617F and JAK2 exon 12 mutations are negative in a patient with subnormal serum Epo level, the possibility of EpoR mutation-associated congenital erythrocytosis should be considered."

As far I can tell, my EPO is quit normal at 6.8.... 

Also, the artcile goes on to say this as well..

"Scenario 4: JAK2V617F negativity associated with normal or elevated serum Epo level. 

This scenario is not consistent with PV. However, the results of molecular testing do not necessarily override sound clinical judgment, and if one still suspects PV based on clinical grounds, then one should consider additional tests to further inquire about the possibility of PV, including bone marrow examination,93 cytogenetic studies (chromosomal abnormalities are seen in approximately 10–20% of patients with PV at the time of diagnosis)94 and specialized biological assays, such as endogenous erythroid colony growth."

I know I thought the same about the phlebotomist, I think He likes to disagree with me.

I've not had any venesections, I get the impression that all depends on this next test weather he feels it's important to or not.

I'm going have the test I think it's important one, then depending on what the results are and the next process of tests will determine if I stay with him, he's just not acknowledging my symptoms. I do personally feel he's got to look more into the secondary issues especially if this red cell mass test shows my red blood cells are definetly raised and he's done my BMB. Do u know what percentage the red cell mass results show to conclusively say I've got polycythemia?

I am not that conversant with the intricacies of the red cell mass itself other than how they go about testing for this. I can tell you, a red cell mass test isn’t cheap, it’s a complex procedure where the lab technicians are concerned. Thank goodness for the NHS here in the UK that’s all I can say! From what I have read, the optimal Haematocrit reading to best undertake a red cell mass study is 0.50 in men and 0.48 in females.

One of the criteria’s set by the Polycythaemia Vera Study Group (PVSG) in diagnosing PV was a red blood cell mass of 36 mL/kg in males or 32 mL/kg in females, so I am guessing that this is what your Haematologist will be looking for although I am no Doctor so I could be way off the mark here. I too have heard that this test can give false negatives and this seems to be corroborated in some of the literature I have read. I further understand that some countries have done away with this test, preferring instead to opt straight for the bone marrow aspiration.

Sorry, I can’t be of more help.

Kind regards

Keith

My heamocrit is already at 0.53, but my heamotologist is always more concerned about my heamoglobin which is at 174, I thought that those two levels would be high enough in a woman to go straight for the BMB to be honest, but then what do I know hey, I just don't want a false negitive to then be left to live with this. That's why I decided to go for a second opinion if the results not conclusive. X

Yes, I am surprised he hasn’t gone straight to the BMB. Had my JAK2 came back negative, my Haematologist told me that would have been the next step. The Haemoglobin is important but so too is the Haematocrit. Again, my Haematologist considers both to be of equal importance. Time for a second opinion I think if only to satisfy your concerns. To have to put up with feeling so unwell for over 4 months with no relief is no joke. I do feel for you.

Best wishes

Keith

Hi Keith, thank you for your input with everything, I'm just trying to get on with things but It is hard when your not good as everyone on here will vouch for. I appreciate everyone's help and concern. I hope your doing okay Keith? I've rattled on about myself and have you come to any decision on the injection that your heamotologist was recommending? Or got your second opinion? Julia x

Well, I saw my Haematologist again last Weds 9th and I mentioned that I had concerns re the side effects of the interferon injections. Then out of the blue, he said he will support me if I choose to go on to the hydroxyurea after telling me in October that I couldn’t.  So, I now have a decision to make. Is it interferon or is it hydroxyurea, which ones best? As Harry Hill used to say in TV Burb, there’s only one way to find out!!! If you had never seen TV Burb, you won’t have a clue what I am talking about. I wouldn’t commit at the time of our consultation as my wife is currently in the US and I therefore felt I should discuss it with her first (as she is a big part of my life) and any side effects of either drug will have some impact on her. So I am due to see my Haematologist again on 14th Dec for a final decision. I am edging towards hydroxyurea but I’ll make an informed decision come next month. My platelets continue to rise, which is another factor and I had to have another venesection last Friday, which did surprise me as my last one was only a few weeks ago. As a result, I am back to fortnightly blood tests. These had recently gone down to monthly, so next visit to the hospital is 23rd Nov.  I have fully recovered from my gallbladder surgery but had to stay in hospital for 4 days as I was a little poorly, so apart from the usual drawbacks of the PV, I am as fit as a butchers dog!! – OK, as well as can be but I think I am faring better than you at the moment. This may change come the interferon or hydroxyurea treatment. As a side note, I have to say the care I received during my stay in hospital was outstanding, the nurses were absolutely brilliant!

Hang in their Julia, you are not alone, we are all with you on this.

Take care

Keith

Hey Keith....

Do you remember what your blood work was at the time of your diagnosis? Was it just your red-cell count that was high? We're there other counts that were high? Did you have any symptoms? Like Julia, I too am completely frustrated. 

Kevin my bloods have risen every time they do a FBC, when I first went my blood was Heamoglobin 164 my heamocrit 0.48 and my red blood cells were at 5.66. It's just my red blood cells however the size of my red blood cells are small, my platelets were just slightly above 400 at 423, but they were not concerned and since then they have been normal, my white cells have consistently stayed at around 7.00. I had two more blood tests with my heamotologist I don't have the middle results but my last ones have risen from 164-174 0.48-0.53 5.45-5.66 in just four months, my symptoms are even worse now, it's dizziness every day, headache, my heads strange some days I can't bear people talking to me, and looking at the light like I have a type of migraine, I've painful hands and cold hands and feet, sometimes my finger nails go blue. My heamotologist has not acknowledged these symptoms of Polycythemia and told me to go back and see my GP, my GP says he can't help me while my blood is high and I've got polycythemia readings other than dizzy tablets, which I take three times a day but they are not helping. Oh and two years ago all my blood levels were normal and since have slowly risen. I haven't had a blood test in two month and with my heamotologist not acknowledging my symptoms as Polycythemia, I'm been left until I get my next test which is a red cell mass, which is only to confirm that I have Polycythemia, I know I have, and the red cell mass is not a difinitive test it can give out false negitive so rather skeptical of having it, once my appointment through, I'll make a decision on weather to have it or change my heamotologist, I think I need another full blood test reading too. It's a crazy frustrating process. Xx

All the best Keith, I hope you get sorted and your platelets don't get any higher Keith that's a big worry for you. Xx

My Red Blood Cells at the time of diagnosis were 6.71, Haemoglobin 20.3 and Haematocrit 0.60.  My platelets were also raised at the time although I can’t remember by how much, but they have been steadily increasing this past year. They are now hovering just under 700, I think 697. My complete WBC’s are currently just over the normal range at 15.1. They are usually within range apart from the Neutrophils that are sometimes over. The reason my full WBC count may be over this month could be a result of the gallbladder operation I had in early October.  One of my symptoms was Plethora, which was very pronounced according to my Haematologist. My wife used to comment on just how red my face and hands and feet were and I used to think I just had a permanent suntan as I spent half the year in Naples, Florida. Since the venesection, I now realise just how pale I am, the suntan look has gone!! Other symptoms included being out of breath, severe dizzy spells, tinnitus, a dull ache on the upper left side of my abdomen, which proved to be a slightly enlarged spleen, fatigue and migraine with aura. The migraines with aura was by far the most debilitating  of all my symptoms and these started back in 2010 and just got steadily worse. In hindsight, I think this is when perhaps the first signs of PV started to show. Since the venesection programmes, my symptoms have mainly stabilised. I have not had a headache let alone a migraine for months now. I do still get fatigue and often take afternoon naps, which help. I get a little itching after taking a shower, some days are worse than others. The tinnitus is still very bad and because I have moderate hearing loss, no one can say whether it’s due to the hearing loss itself or down to the PV. The Audiologist that I saw said I qualified for two hearing aids, which I subsequently received back in June and when I put these in my ears in the morning, they certainly help with reducing the tinnitus. The problem is when I come to take them out of a night as the tinnitus becomes really pronounced. So to help, I bought a tinnitus relaxer, which is a sound oasis. It plays chimes, surf/sea music, which helps take my mind of the ringing in my ears, it helps get me (and my wife come to that) off to sleep.

Hope the above information is of help to you Kevin

Kind regards

Keith

I'm sorry Kevin I answered a question that was for Kieth 😬

Thanks Keith.... I am assuming that it was a few years before you were finally diagnosed? Did you ever get the Jak2 test done?I am slated to see a hematologist in June of next year, and I called today to see if I could bump it up from a cancellation or something, but unfortunately most people do not cancel. The secretary did reassure me that the Dr (Hematologist), who is really recognized in the field, reviewed all of my lab work... and that the fact that my appointment is in June of next year, is because the Dr is not overlly concerned after reviewing my labwork, and that I should take that as some reassurance; in other words, I shouldn't stress to much about it... I don't have any fatigue, dizzyness, headaches, tinnitus (although my ears sometimes do get really short spells of ringing lasting maybe 2 to 3 seconds or so, but my wife says she gets the samething lol) and as far as I can tell, no plethora. I do have itchy skin, but mostly on and off throughout the day, and when I workout, and I might itch slightly after a shower, but not much.  My spleen has been checked several times and has been normal each time. The only counts that have been high for me so far, has been my Hb and maybe my Hct. But the last two times I had blood work done, which was 2 months ago, everything was within range, Hb 17.0, Hct 47.0. etc... The interesting thing is, this time, instead of doing my blood work in the morning, I waited until mid afternoon, and made sure I was hydrated, and everything was fine. So I waited 2 weeks and repeated, and everything was fine again... Its quite confusing to me, which is why I have a number of questions I want to ask the Hematologist... Why the difference from am to mid-afternoon? Is this a hydration problem? Is this normal? Why am I itching? lol... 

Yes, I am JAK2V617F positive. The fact that the Haematologist you are due to see has seen your lab work and doesn’t feel he needs to see you until next year is reassuring. At the start of my journey, I received a letter from the hospital confirming an initial appointment with my Haematologist for 2 months later following a referral from my GP. That same day (morning) I then received a phone call asking me to come to the hospital the very next day. It transpired the Haematologist saw my blood reports and brought my appointment forward immediately. He told me this at our very first meeting. So you can take comfort that if your Haematologist thought you were at any immediate health risk, he would almost certainly see you sooner.

At least when you do finally see him, you know he has a good reputation and he will be thorough.

Take care

Kind regards

Keith

Kevin