JAK2 Mutation, Low Iron and High Platelet count

Posted by pattitoo @pattitoo, Nov 25, 2020

I was being treated for low iron – was sent to a Oncology Hematologist- had Iron Infusions – gradually the iron values increased. Only received an infusion two times. The doctor is seeing me every 6 months, Platelets are increasing and I was told I was born with the JAK 2 Mutation apparently never surfaced ever until recently. I was a regular blood donor, and years ago I was needing iron and saw this same type of physician. For raising Platelets, eventually I will be put on a medication, he said my count must be 1.000,000 first (one million).

What in blood work determine a Jak 2 Mutation? I have not given blood since the two diagnoses. Any information of your experiences or knowledge will be appreciated.
Thank you.

@colleenyoung

Allow me to be the acronym buster (self-proclaimed 🙂
MPN = Myeloproliferative neoplasms, a group of diseases that affect blood-cell formation.
ET = Essential thrombocythemia, an uncommon disorder in which your body produces too many platelets.
PV = polycythemia vera, a blood disorder in which the body makes too many red blood cells.
MF = Myelofibrosis, an uncommon type of bone marrow cancer that disrupts your body's normal production of blood cells.
(ST, I believe this was a typo for ET.)

The JAK2 mutation is acquired and not inherited. People are not born with this mutation, but instead develop it in their bone marrow cells sometime later in life. @pattitoo, I would question your doctor about this and encourage you to get clearer answers.

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Colleen – thank you – those are going to be helpful. No doubt – I am not getting much needed information from the current doctor.
And he say I was born with it.
Recently I had a lot of blood work done – was applying for life insurance, everything was good, Blood work excellent,

A QUESTION: Is it normal to have "what ever I have" and have normal blood work? The testing for blood was most I have had done in years. I would think some areas would be out of range.

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@mjpm2406

You should look at the MPN Research Foundation webpage for information regarding ET and the JAK2 mutation. Lots of good material on their webpage.

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Thank you, I will do that. For sure I want to learn all I can. Normally, my curiosity for things medical is much easier
to comprehend. This is over-whelming to me. And my computer is new and not married up to the printer, must get that
done soon.

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@pattitoo

Thank you, I will do that. For sure I want to learn all I can. Normally, my curiosity for things medical is much easier
to comprehend. This is over-whelming to me. And my computer is new and not married up to the printer, must get that
done soon.

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Dear Pattitoo, for your own cımfort and well being get a 2 nd opinion and visit a specialist physician. After you have a good diagnosis you can study and make a treatment plan and explain the medications needed. Take care and be safe

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Treatment plan to be made and discussed with the doctor.

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3 years ago I was diagnosed with ET abut after a Bone Marrow biopsy, I was informed I actually had Primary MF with a Jak 2 mutation. I had been going to an Oncologist who specializes in Breast Cancer. She put me on Hydrea and it worked but I did experience some unusual side effects….purple toes, and cloudy lungs. I tried to find someone who specializes in Blood Disorders and was fortunate to find some EXPERTS at the Mayo Clinic and MD Anderson…fortunately I live in Phoenix and these folks have a whole different level of understanding! However, I am stage 1 so they will not do the routine follow ups with me…only when I experience wierd side effects. They focus on people with blood disorders who need a bone marrow transplant and that requires a stage 2 or 3 diagnosis…I pray I never get there. I can tell you that YOU need to do research to understand your situation and FIND an Oncologist who is a specialist in Blood…..they are as rare as this disease…but they will see you if for nothing else but to clarify your disease in much more detail then a typical Oncologist. Remember, these folks are building a practice so they tend to specialize in the more common cancers. Good luck….be positive …

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@helen2209

Dear Pattitoo, for your own cımfort and well being get a 2 nd opinion and visit a specialist physician. After you have a good diagnosis you can study and make a treatment plan and explain the medications needed. Take care and be safe

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For now – totally confused by the present doctor – must find another. Thank you Helen.

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My daughter was diagnosed couple weeks ago with JAK 2. First thing he ordered was a bone marrow biopsy. We haven’t gotten the results of that yet. He started her out with IV Iron and we’re waiting to talk to him about the test results

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@levieta

My daughter was diagnosed couple weeks ago with JAK 2. First thing he ordered was a bone marrow biopsy. We haven’t gotten the results of that yet. He started her out with IV Iron and we’re waiting to talk to him about the test results

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The Bone Marrow procedure is a first step. He should also do a molecular panel to determine if any other genes have mutated. It is common for several genes to mutate. The JAK2 mutation usually causes a high platelet count. I have the JAK2 mutation and the SRSF2 and SFB31 gene mutation. The molecular panel identified those two mutations. So my original diagnosis of Essential Thrombocytosis (ET) changed to MDS/MPN-RS-T after the molecular panel results came back. Good luck.

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I have an appointment Monday, 12/17/2020 with my GP – have questions and feel he will give me some
guidance. This is the same doctor that had me see a heme doctor because of my iron issue. I still have
the need to know what in the blood work suddenly showed the JAC 2 mutation – other than elevated
platelets all values were normal.
When reading the posts, I fully-know I have much to learn for my diagnosis.
Wishing each of you a wonderful, heath-filled holiday season.

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@pattitoo

I have an appointment Monday, 12/17/2020 with my GP – have questions and feel he will give me some
guidance. This is the same doctor that had me see a heme doctor because of my iron issue. I still have
the need to know what in the blood work suddenly showed the JAC 2 mutation – other than elevated
platelets all values were normal.
When reading the posts, I fully-know I have much to learn for my diagnosis.
Wishing each of you a wonderful, heath-filled holiday season.

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A GP is not going to have any answers for you. They do not specialize in blood cancers. I suggest you find a doctor whose specialty is Leukemia. Blood tests can identify high platelet counts and abnormal white or red blood cells. For instance, the ratio of white cells to red blood cells or the size of the blood cell may be too large or too small. In my case, I have a lot of white cells that are "immature". There is a blood smear test that looks at the most common gene mutations. I suspect that is the test they used to identify your JAK2 mutation. I don't know where you live but there must be a Leukemia group near you that you can call for a consultation. My bet is they'll recommend a bone marrow procedure and a molecular panel. Good luck.

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Since I have not seen my GP for a very long time, I feel I should see him – I fully realize he is not a blood specialist.
It is not fair to leave him totally out of the loop, as I don't know if the current Heme doctor has sent lab results to him.
It is rare I see a doctor for any reason. His NP handled my UTI. Currently few doctors are seeing patients if there is
another option.
For example, I needed a new script for a cream, the GYN's nurse FAXed the script to my pharmacy.
Truly, my thinking and thoughts are a blur…..

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Hi Helen- Thanks for your post. I was diagnosed with Essential Thrombocytemia and mutant JAK2 genes at 1.2 million platelets. The platelet count comes down when I take 325 msg aspirin and quinine daily. Stay tuned. Happy New Year.

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