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Sounds like Essential Thrombocythemia (ET) which is one of the MPN diseases. I was originally diagnosed with ET by a Hematologist but after I had a bone marrow procedure and a molecular panel my final diagnosis was MDS/MPN-RS-T. I also have the JAK2 mutation and a high platelet count. So I’m on Hydroxyurea to reduce the platelet count. I also have several other gene mutations including the splicing genes SRSF2 and SBF31 which is on the MDS side. Not sure how your Hematologist can say you were born with the JAK2 mutation because exposure to toxins can cause gene mutations. I suggest you get a bone marrow procedure and the molecular panel done to confirm your diagnosis. Good luck

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Replies to "Sounds like Essential Thrombocythemia (ET) which is one of the MPN diseases. I was originally diagnosed..."

Thank you for getting back with me – I truly am appreciative for you input. Have questions and am willing to do any tests recommended.
So far he has not suggested any other tests, just the med when Platelets reach 1 million.
I am totally clueless what arm of the blood work showed the JAK 2 Mutation. It was my 3 visit he told me of JAK 2 and very little blood work was done for that visit. I always get copies of my blood work.

I was recently diagnosed with MDS/MPN-RS-T with Jak2 mutation also. My doctor recommended this site. It makes me feel better to know of someone with this. I have so much to learn. I find info on MDS or MPN or Jak2, but this is the 1st time I've seen anyone with my same diagnosis. I'd love to learn more about your experiences if you'd consider sharing. Thank you. Debbie (age 63)