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JAK2 Mutation - Effects and Questions
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.
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Hello,
About a year ago I was diagnosed with antiphospholipid antibody syndrome and JAK 2 Mutation following the discovery of a clot in my head. I am currently on coumadin and my other bloodwork has been normal. I know very little about JAK 2, however, I am aware that it can develop into cancer or other blood problems. The way it was explained to me by hematologist is that it may happen, but it's not a definite. Is there anything that I can do to be proactive other than having my blood drawn regularly?
Thanks so much!
Hello @kimmermat, welcome to Connect. You may notice I moved your discussion and combined it with an existing discussion titled, "JAK2 mutation effects and questions." I did this so you could read through the many posts by members on this exact topic as well as so those members could see your post and have a chance to introduce themselves to you and share their insights.
@kimmermat, while we wait for others to join in again, were blood draws the only thing discussed with your hematologist?
Yes. I meet annually with my hematologist. My primary care physician monitors my clotting factors. I also see a neurologist who is monitoring the blood clot.
My husband has the JAK2 but was diagnosed with both ITP and MDS all at the same time.
Hi, what is ITP?
ITP is an autoimmune disease,
also called idiopathic
thrombocytopenia, that attacks the
body’s platelets, so you don’t have
enough platelets in your blood. ET is a overproduction of platelets and ITP is the under production of platelets. No known cause as far as I know. But having MDS at the same time probably makes his diagnosis extremely rare. Wondering how he was diagnosed. Was it based on a molecular panel or a BM Aspiration/Biopsy?
It started with a little nose bleed that persisted for a couple weeks. He had some blood work done and that night he was told to go to the E.R. Transported the next day to Rochester and diagnosed within a week. Bone marrow and lots of blood tests. Platelets got as low as 2K
Did they do a molecular panel to determine which genes have mutated? The reason I ask is I have MDS/MPN Overlap with Thrombocytosis which like your son is two different blood cancers. The bone marrow aspiration and biopsy results which were done at Sloan were confusing as they indicated multiple issues including MF but the molecular panel cleared up the confusion when that test indicated I was JAK2 and SRSF2 Positive. My doctors at Sloan are huge fans of the molecular panel so you might want to pursue that test. Good luck.
I am Jak2 and this was diagnosed after 2 mild strokes in which I experienced numbness in my left hand, inside my left cheek and tingling of my left foot. Both strokes occurred in the sa.e week. My platelet count was very high and my BP shot up well over 250. I am 75 and otherwise very healthy. I am on aspirin, hydrea, and bp meds and doing fine but am extremely tired most of the time. How do you all handle the fatique?
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I don’t get overly fatigued but the Hydea does give me an upset stomach that lasts for 30 minutes or so. I force myself to go to the gym for 60 minutes 4 times per week. My MDS/MPN is currently under control but I also have 4 leaky heart valves. Two minor and two mild-to-moderate. I get an echo every six months to check on those leaks. My blood cancers were most likely caused by exposure to toxins at Camp Lejeune, NC as the drinking water there has been contaminated since 1954. I was also exposed to dioxin (Agent Orange) in Vietnam. I assume the same toxins that caused my blood cancers may be responsible for the damage to my heart valves. Guess I’ll never really know. I also share something you have. I have neuropathy of both my feet. I was diagnosed with HSN Type 1 years ago. HSN is hereditary neuropathy which runs rampant in my family. Comes down on the X chromosome so thank you mom and grandma. I do get fatigued but I know I have to keep moving. I don’t have high BP so I can’t offer you any advice on that. I assume your doctor will tell you to excercise, excercise, watch your weight and watch your diet. Good luck with your treatments