I have been diagnosed with primary polycythemia because all of my red blood counts were all quite high. My platelets were normal but monocytes were high and mutation tests came back negative. I’m scheduled to see hematologist in a month, it’s frustrating!
I read that sometimes mutation ie jak2 sometimes don’t show up. I saw someone had it negative the they went to hemotologist and it was positive. Does any have experience with this?
About 3% of people with PV are JAK2 negative. It is rare, but possible. You may also be looking at a secondary PV rather than a primary PV. Too soon to know. Some MPNs just do not fit neatly into one of the typical categories. I am sure you will be repeating blood tests as well as looking into a variety of diagnostic testing. Hopefully you will get answers soon.
Thanks hunter! I live in Mexico most of the year. I’m going to get a 3rd CBC down here but without going to Mexico City I don’t think I can get the Jak2. I have an appointment in San Francisco with a hemotologist the end of next month. It’s frustrating not to know but do you ever really know?
The answers can get more clear, but you really need consultation with a doc who is an expert in MPNs. Most docs, even hematologists, do not have much experience or expertise in these rare disorders. Here is a list of patient-recommended docs with MPN expertise. There are two in Mexico and one in San Francisco. A bunch in other parts of CA. mpnforum.com/list-hem/ . hope you get answers soon,
Thanks Hunter! I have insurance in California so anything expensive I do It needs to be there. CBCs in Mexico cost $5 at the best lab. They don’t use the elastic bands like in the US. They have a nice little belt with felt that doesn’t hurt! Who would think they’re more civilized down here!
Im going to check into the doctor in San Francisco! My referral was to a regular Hemotologist I think! Someone said the most important
Thing is the lab work. Do you think that’s true?
Thanks again
The lab work is really important. I would think that in addition to CBCs, the doc would want to see a Comprehensive Metabolic Profile. Genetic testing for CALR and MPL mutations would be on the list. To rule out secondary polycythemia, some specific tests on kidney function, and possibly a CT of chest/abdomen. There are a number of conditions that can cause secondary polycythemia - so they will need to be ruled out one at a time if all genetic mutation testing is normal. What you are describing has a cause, it just needs to be figured out. MPNs do not always fit into one of the neat categories, which is why it is so important to find a doc who really has expertise in these rare disorders. All the best to you.
I had the full mutation test 6 diff mutations. Metabolic profile was normal, erythropoieten low. The lab did say there is another mutation test I can do. My monocytes are high and climbed from 12 to 17 in 1 month. Have not had ct scan or bone marrow. Based on what you’ve said I’m calling Stanford today and not messing with some Hemotologist who’s not a specialist. Thanks for your help!
I was diagnosed 10 years ago with Primary PV and JAK 2 negative. Have 3 monthly blood test and venesections when necessary. Take aspirin once a day.
Hi mark! Did you get bone biopsy? I’ve been told to go to an MPN specialist. Just wondering if I should change Drs. Glad all is working well for you!
No, never had a bone marrow biopsy. In fact it has never been mentioned. I can't fault the care I get from my haematologist and can call her anytime if I'm feeling unwell and she will always see me. Never misses a thing. She is aware of everything that is going on even none PV tests etc. Guess I dropped lucky.
Diagnosed with Essential Thrombocytosis with JAK2 negative with some of my red blood cells abnormally-shaped. 
High Blood Pressure meds with ET+Jak2
High Red blood cell count
High red and white blood cells
triple negative pre-fibrotic primary Myelofibrosis with SH2B3 mutation 
