JAK2 Mutation - Effects and Questions

Posted by ettap @ettap, Mar 29, 2018

Have JAK2 mutation verified twice; one year apart and from different labs. As I understand, it may cause polycythemia vera, essential thrombocytosis, or leukemia. My hematologist has not provided any real info on this mutation so I've been researching via internet. I knew leukemia is cancer but was disappointed to find out today that the other 2 are blood cancers as well. I have been seeing a hematologist every 3 mos. about this since my 2nd blood clotting event in 09/2016. To date, all my blood factors have been in the normal range. Here are some of my questions: 1. Is it typical to verify this mutation well before it triggers one of these diseases? 2. I know early detection of cancer can be a real plus, but is there any research or experience that supports proactive steps that can be taken to deter the onset of any of these possibilities? 3. With polycythemia vera and essential thrombocytosis, is blood letting the primary treatment? If so, can the blood be donated? 4. Since none of my blood factors have ever been out of the normal range to date, no specific result of the JAK2 mutation has raised its ugly head. Is this normal? I'm not typically a worrier. In fact, I do really well with things like this once I know what I am dealing with. Information becomes my sword which allows me to take worry and nip it in the bud.

@livelife

Im given aspirin and posibly jak2 might b repeated , do these MPNs progress with time like is it a norm for them to progress or can it stay in the same ratios ? Is ET blood cancer ? Im young 31 so can it go into remission on its own or naturaly if i keep good diet ? Also does black seed cause any affect to cell proliferation ive read on certain pages that its effective natural med ? Any views…. i might have jak2 neg ET because all readings r normal just platelets are high and im asymptomatic . Is jak2 pos ET more dangerous than jak2 negative???

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So how was your ET, JAK2 Positive diagnosed? Did your Hematologist or Oncologist do a bone marrow procedure and molecular panel? Sometimes doctors use a blood smear which only looks at the most common gene mutations. The molecular panel looks at 400 genes. You need to know what genes gave mutated so your doctor can properly treat you. Good luck.

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With my ET; my latest B12 reading is over 2,000, twice the upper limit. Is this indicative of anything? And my platelet count exceeds 1 mill, we will be discussing meds to lower it.

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@wa34937

With my ET; my latest B12 reading is over 2,000, twice the upper limit. Is this indicative of anything? And my platelet count exceeds 1 mill, we will be discussing meds to lower it.

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Are you on any meds? Hydroxyurea is usually prescribed to reduce a high platelet count. You should get a bone marrow procedure and a molecular panel to identify what’s really going on and which genes have mutated. Good luck.

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Hi, I haven't been diagnosed with PV yet, but I'm getting the JAK2 test done soon. All of my blood counts are elevated and have been for some time. My sister, aunt, cousin, and second cousin all have Crohn's disease. Some of the research I've done has linked Crohn's with the JAK2 gene. Does anyone have info on the JAK2 and Crohn's? Does anyone else have family members with Crohn's that are suffering from PV?

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@mjpm2406

Are you on any meds? Hydroxyurea is usually prescribed to reduce a high platelet count. You should get a bone marrow procedure and a molecular panel to identify what’s really going on and which genes have mutated. Good luck.

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I'm five mos in from the discovery of JAK 2, started at 680, now hovering above 1 mill platelet count. Haven't tested marrow, scan shows spleen is normal. Remainder of blood test is within range, just starting 500 mg hydroxyurea and 300 mg allopurinol daily. My Hematologist doesn't think this will progress into other diseases, should pretty much be a situation of lowering platelet count and monitoring it.

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Just because you have the JAK2 mutation it doesn't mean you cannot have other gene mutations. I suggest you get the none marrow aspiration, biopsy and molecular panel done. Knowledge is power. Once you're properly diagnosed your oncologist will know how to treat you.

Liked by janemichele, wa34937

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@mjpm2406

Just because you have the JAK2 mutation it doesn't mean you cannot have other gene mutations. I suggest you get the none marrow aspiration, biopsy and molecular panel done. Knowledge is power. Once you're properly diagnosed your oncologist will know how to treat you.

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I am in agreement.

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Look online for facts about high platelets (ET). The doctors use this general rule of thumb: patients under 60 (& "low risk," meaning not other problems or malfunctions), take 1 aspirin. Over 60 (& if scores are high consistently, & esp. if you have other issues) need more meds. I take 500 mg Hydroxyurea daily (was 5 days for first 2 years), exercise, sleep more than I used to!), eat well, and focus on wellness. I am 67 and get more tired but that's probably age too:-) Not sure now if I should travel this April with coronavirus and a stop in London & JFK airports….but there are cases here on West Coast too….

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@wisdom15

Look online for facts about high platelets (ET). The doctors use this general rule of thumb: patients under 60 (& "low risk," meaning not other problems or malfunctions), take 1 aspirin. Over 60 (& if scores are high consistently, & esp. if you have other issues) need more meds. I take 500 mg Hydroxyurea daily (was 5 days for first 2 years), exercise, sleep more than I used to!), eat well, and focus on wellness. I am 67 and get more tired but that's probably age too:-) Not sure now if I should travel this April with coronavirus and a stop in London & JFK airports….but there are cases here on West Coast too….

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I assume that all if us who have blood cancers have immune deficiencies so traveling to any area that has active outbreaks of the coronavirus isn't a good idea. As I understand it, older people with underlying health issues are the people who are most likely to succumb to the coronavirus or the Type B flu if not inoculated. Of course traveling on a plane places you in close quarters with other passengers and increases the likelihood if exposure to all kinds of nasty things. We're scheduled to go to Northern Italy in late June. Not sure if that trip will be canceled but it doesn't look good at the moment.

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@misty45

I'm happy to share my experience. #1. No, do not need to give blood. The Hydrea is toxic enough to kill the excess platelets. #2. I have experimented over the years to cut back a little from the prescribed dosage simply to minimize the amount of toxicity I'm consuming. My Docs have not liked this kind of fooling around with the dosage. So I've been steady at 6 days a week, no Sundays for about a year. No side effects from the Hydrea after the initial first month twenty years ago. #3. I still have no symptoms of this strange blood disorder called ET, regardless what my count is on any given day. I go every 3 months for a cbc. It puzzles me that at 72, I still feel the same with a count of 480 as I did at age 40 when I was diagnosed with a count of 800. #4. My two Docs (first one retired) have dangled the ultimate fear over me since the diagnosis, but so far my ET has not morphed into leukemia. Having no symptoms and in disbelief, I went to the Scottsdale Mayo Clinic for a second opinion at some point in the 1990s. Same diagnosis. Very disappointing because I was really convinced that nothing was wrong with me. Thanks for sharing the NIH info. I always like to run across updated information on PV,ET, and other blood disorders. You may never progress to anything more advanced. Best wishes.

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I have just been diagnosed, ET with JAK2 mutation….he wants me to start on Hydrea…it is reassuring that you are not having major side effect issues with it….I already have several symptoms of the disease and can't figure out why i would be taking a medicine that will not help get rid of the symptoms, but could increase them??? very confusing…..

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@godschild56

I have just been diagnosed, ET with JAK2 mutation….he wants me to start on Hydrea…it is reassuring that you are not having major side effect issues with it….I already have several symptoms of the disease and can't figure out why i would be taking a medicine that will not help get rid of the symptoms, but could increase them??? very confusing…..

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Hello, was diagnosed with PV due to very high platelet count that led to 2 mild strokes. Am very healthy person overall and surprised that I had 2 mild strokes which lead to PV diagnosis. My main issues were extreme fatigue and an itchy back. Am now doing fine taking1 hydreau pill day and platelets in normal range. Did anyone else have a stroke as a result of undiagnosed high platelet count?

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