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.

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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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My daughter was recently diagnosed with JAK2. She has had two iron treatments and has another Tuesday. Her platelets are above 900 still. She is on aspirin 81mg daily Doc says he won’t have to treat the cancer unless her blood starts clotting.
Her energy has increased somewhat. Her headaches have slowed and she is starting to feel some better.

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@levieta

My daughter was recently diagnosed with JAK2. She has had two iron treatments and has another Tuesday. Her platelets are above 900 still. She is on aspirin 81mg daily Doc says he won’t have to treat the cancer unless her blood starts clotting.
Her energy has increased somewhat. Her headaches have slowed and she is starting to feel some better.

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A high platelet count typically is indicative of Essential Thrombocythemia. The normal treatment is Hydroxyurea which shuts down the JAK2 and reduces the high platelet count. Has your daughter had a bone marrow procedure and a molecule panel to determine if she has any gene mutations?

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@mjpm2406

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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Thank you so much for your feedback. The oncologist is still doing blood work while treating her with iron infusions. He hasn’t prescribed any blood thinners for the high platelets. However, she is seeing a neurologist due to fluid on the brain and he prescribed them yesterday after he did an angiogram. She sees the oncologist today and will discuss further treatment plans

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@pattitoo

Helen2209 – you are right, I am confused – deeper information should have come from the doctor.
Possibly see another doctor is in order.
The terminology is new to me, I normally have a curiosity on learning things medical….this is to much for me.
With the help from posters like you and Colleen, I will muddle through this.
Thank you very, very much for your reply.

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Remember the types of blood cancers you are discussing are extremely rare and most doctors have no experience with them, further finding specialists is hard since these disorders are so rare. If you live near a Mayo Clinic, MD Anderson facility or Sloan… would Strongly recommend going to them for real answers. Or even a trip to one if travel is required. Doctors egos sometimes let them “ think” they have all the answers, but I have personally learned more in the past three years then many of them understand and I have caught them being wrong on multiple occasions. Ths is your health and You need to be your own advocate! Good Luck

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@dwlowrance

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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dw, check to see if the tonic water you are using contains high fructose corn syrup. You may find red palm tocotrienol as a replacement. It lowered my wife's platelets.

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@onamission

dw, check to see if the tonic water you are using contains high fructose corn syrup. You may find red palm tocotrienol as a replacement. It lowered my wife's platelets.

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Thanks for the email. I take quinine via extract of the red chinona plant bark with no sugar or sweeteners. Thanks for the suggestion on red palm tocotrienol. Happy New Year again and Valentines Day.

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