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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Pattitoo….
Let me share my three years of experience in chasing my diagnosis. First, high platelets is a symptom that requires further investigation. In order to determine MPN and Genetic disorders, a bone marrow biopsy is required and a full genetic blood panel. Going for my second tomorrow. If you do have an MPN, it is an extremely rare condition and requires an EXPERT to review. After I was originally diagnosed, I researched the local experts at Mayo Clinic and MD Anderson….fortunately I live in Phoenix and have those available. The difference between a general Oncologist and one who specializes in blood disorders is incredible….find one. I was originally on Hydrea but developed some rare side effects and recently switched to Interferon Injections.
Many types of MPN’s are manageable with medication but you really need to know what you have. I have PMF which IF it progresses might require a bone marrow transplant. My niece has ET which is manageable by pill. My mother also has a lower level disorder which really requires awareness but no treatment. ( she was told for years that she has leukemia, she did not!) So I was aware of some of these issues all my life and how general physicians are not up on these diseases or treatments.
The recent COVID research and need to speed up approvals has resulted in many other drugs being researched and even approved for other diseases and MPN’s are a good example. There are new treatment options and quite a few clinical trials as we speak. I wish you well with your journey to discovery, do not let misinformation deter you from finding your answers. Good luck!
Steve

REPLY
@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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My husband was just told by the hematologist he was referred to that he has Jak2 mutation and is awaiting bone marrow biopsy. He is 52 yrs old and I am a nurse who never heard of this. Last month he had been diagnosed with his first bout of diverticulitis, and has yet to follow up with getting a colonoscopy that he was recommended to have. The diverticulitis is the reason they did a blood panel & was referred to hematologist. Reading up on what JAk 2 is, I have become quite anxious and I want answers now. I don’t even know what questions to ask. Any advice would be so helpful. Thank you

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@colleencro

My husband was just told by the hematologist he was referred to that he has Jak2 mutation and is awaiting bone marrow biopsy. He is 52 yrs old and I am a nurse who never heard of this. Last month he had been diagnosed with his first bout of diverticulitis, and has yet to follow up with getting a colonoscopy that he was recommended to have. The diverticulitis is the reason they did a blood panel & was referred to hematologist. Reading up on what JAk 2 is, I have become quite anxious and I want answers now. I don’t even know what questions to ask. Any advice would be so helpful. Thank you

Jump to this post

When they do the bone marrow (BM) procedure they should do a molecular panel which looks at 400 genes commonly associated with blood cancers. The JAK2 mutation is common among many different blood cancers. The BM and molecular panel should identify what type of blood cancer your husband has. When you get the results you should have a long talk with your Hematologist/Oncologist. We're here for further information but first, get the appropriate tests done.

Good luck.

REPLY
@colleencro

My husband was just told by the hematologist he was referred to that he has Jak2 mutation and is awaiting bone marrow biopsy. He is 52 yrs old and I am a nurse who never heard of this. Last month he had been diagnosed with his first bout of diverticulitis, and has yet to follow up with getting a colonoscopy that he was recommended to have. The diverticulitis is the reason they did a blood panel & was referred to hematologist. Reading up on what JAk 2 is, I have become quite anxious and I want answers now. I don’t even know what questions to ask. Any advice would be so helpful. Thank you

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Thanks for the question. I was diagnosed with Thrombocytosis, Essential Thrombocythemia and JAK2 gene mutation over 3 years ago. It is a form of blood cancer that is not very life threatening. The MPN Foundation has been most helpful to my understanding. I chose to avoid chemotherapy drugs prescribed by my oncologist. I take 325 mg ASA daily and have a platelet count every three months. The MDs try to frighten me into drugs or stroke, but I believe the cure may be worse than the disease. If you have a medical background, you may take a very different view. I hope this helps with your anxiety. I live with the disease daily and travel, work and play a full life at 73.

REPLY
@mjpm2406

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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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)

REPLY
@stefnclr

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)

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Hi Debbie,

I was diagnosed in January 2019 at Sloan after a bone marrow procedure and a molecular panel. MDS/MPN-RS-T is extreme rare. Only seven patients at Sloan in Manhattan and they see leukemia patients from the Tri-state area and international patients. Sloan said there are approximately 700 cases per year in the states. That goes to the point that this is an extremely rare disorder. I’m on a daily 500 mg Hydroxyurea and 81mg aspirin regime. So far so good. My hematologist/oncologist says we have a 30% chance of mutation to AML but that means we have a 70% chance this sucker won’t mutate. So the odds aren’t that bad. My blood labs are now within or near the normal range so things are going well for now. I also have a severe form of Axonal Neuropathy. I had Exome Sequencing and Whole Exome tests done on November 5, 2020 at Weill Cornell Hospital in Minhattan and I’m waiting (impatiently) to learn which subset of that disease I have. Hopefully, not the worst forms. Do you know which genes have mutated?

How are you tolerating the treatment so far?

Marty

REPLY
@mjpm2406

Hi Debbie,

I was diagnosed in January 2019 at Sloan after a bone marrow procedure and a molecular panel. MDS/MPN-RS-T is extreme rare. Only seven patients at Sloan in Manhattan and they see leukemia patients from the Tri-state area and international patients. Sloan said there are approximately 700 cases per year in the states. That goes to the point that this is an extremely rare disorder. I’m on a daily 500 mg Hydroxyurea and 81mg aspirin regime. So far so good. My hematologist/oncologist says we have a 30% chance of mutation to AML but that means we have a 70% chance this sucker won’t mutate. So the odds aren’t that bad. My blood labs are now within or near the normal range so things are going well for now. I also have a severe form of Axonal Neuropathy. I had Exome Sequencing and Whole Exome tests done on November 5, 2020 at Weill Cornell Hospital in Minhattan and I’m waiting (impatiently) to learn which subset of that disease I have. Hopefully, not the worst forms. Do you know which genes have mutated?

How are you tolerating the treatment so far?

Marty

Jump to this post

By the way, check out the websites for
Myleukemia.com, MyMPNteam, MPN Research Foundation, MDS-foundatio.org.
They have good resources.

REPLY
@mjpm2406

Hi Debbie,

I was diagnosed in January 2019 at Sloan after a bone marrow procedure and a molecular panel. MDS/MPN-RS-T is extreme rare. Only seven patients at Sloan in Manhattan and they see leukemia patients from the Tri-state area and international patients. Sloan said there are approximately 700 cases per year in the states. That goes to the point that this is an extremely rare disorder. I’m on a daily 500 mg Hydroxyurea and 81mg aspirin regime. So far so good. My hematologist/oncologist says we have a 30% chance of mutation to AML but that means we have a 70% chance this sucker won’t mutate. So the odds aren’t that bad. My blood labs are now within or near the normal range so things are going well for now. I also have a severe form of Axonal Neuropathy. I had Exome Sequencing and Whole Exome tests done on November 5, 2020 at Weill Cornell Hospital in Minhattan and I’m waiting (impatiently) to learn which subset of that disease I have. Hopefully, not the worst forms. Do you know which genes have mutated?

How are you tolerating the treatment so far?

Marty

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Thank you for responding, very appreciated. As of now, knock on wood, the only mutation is the Jak2. I was on hydroxyurea for the high platelets and 81mg aspirin. I got Covid and after recovering, my bloodwork showed my hgb, rbc, wbc got very low so he took me off hydroxyurea. I get bloodwork done again in a couple weeks, I imagine platelets are high again but mine are faulty, they don't stick together. I hope you get positive results soon on your tests. How long have you had this or been diagnosed? I have had anemia for years, always told due to inflammation. My new general physician sent me to a cancer/blood dr when she saw repeated high platelets along with other signs something wasn't right. He ordered bmb and that's when I was diagnosed, so I don't know how long I've actually had it. He stated we'd monitor monthly blood work, treatment as needed, transfusions and chemo. So far 81mg aspirin each day and doing ok. Worried but trying to learn more about it. Hope to hear from you again.

REPLY
@mjpm2406

By the way, check out the websites for
Myleukemia.com, MyMPNteam, MPN Research Foundation, MDS-foundatio.org.
They have good resources.

Jump to this post

Thank you.

REPLY
@stefnclr

Thank you for responding, very appreciated. As of now, knock on wood, the only mutation is the Jak2. I was on hydroxyurea for the high platelets and 81mg aspirin. I got Covid and after recovering, my bloodwork showed my hgb, rbc, wbc got very low so he took me off hydroxyurea. I get bloodwork done again in a couple weeks, I imagine platelets are high again but mine are faulty, they don't stick together. I hope you get positive results soon on your tests. How long have you had this or been diagnosed? I have had anemia for years, always told due to inflammation. My new general physician sent me to a cancer/blood dr when she saw repeated high platelets along with other signs something wasn't right. He ordered bmb and that's when I was diagnosed, so I don't know how long I've actually had it. He stated we'd monitor monthly blood work, treatment as needed, transfusions and chemo. So far 81mg aspirin each day and doing ok. Worried but trying to learn more about it. Hope to hear from you again.

Jump to this post

I was originally misdiagnosed with Essential Thrombocythemia in 2018 by a hematologist at the VA Hospital on Long Island based on labs and a blood smear. She said, “I know what’s wrong with you and I know how to treat you”. I didn’t believe a word of that because I’m a MIT science guy. Her diagnosis was not based on science. I called Sloan and several days later I had the BM procedure and a molecular panel that analyzes 400 blood genes for mutations. The BM results indicated MDS/MPN-RS-T and the molecular panel indicated the JAK2, SFB31, and SRSF2 gene mutations. Based on those results I was put on a daily regimen of 500mg Hydroxyurea and a 81mg aspirin. Sloan wrote a letter to the VA stating MDS/MPN-RS-T is incurable absent a stem cell transplant and I would be a Hydroxyurea indefinitely or until this blood cancer mutated to full blown leukemia. Turns out the standard protocol for this disease it’s a daily regimen of Hydroxyurea and aspirin for anyone over 65.

Regarding the Axonal Neuropathy- this sucker is more of a problem that the MDS/MPN-RS-T thing because it really effects my quality of life on a daily basis. The geneticists at Cornell won’t prescribe anything to alleviate the spasms and tingling until they know what my actual diagnosis is. Turns out many forms of Axonal Neuropathy are caused by gene mutations or low levels of one or more proteins. The trick is to identify which genes have mutated and what protein levels are missing or are either too low or too high. I have tried the standard drugs for nerve pain but they don’t work. So we wait for the results of the Exome Sequencing tests.

REPLY
@mjpm2406

I was originally misdiagnosed with Essential Thrombocythemia in 2018 by a hematologist at the VA Hospital on Long Island based on labs and a blood smear. She said, “I know what’s wrong with you and I know how to treat you”. I didn’t believe a word of that because I’m a MIT science guy. Her diagnosis was not based on science. I called Sloan and several days later I had the BM procedure and a molecular panel that analyzes 400 blood genes for mutations. The BM results indicated MDS/MPN-RS-T and the molecular panel indicated the JAK2, SFB31, and SRSF2 gene mutations. Based on those results I was put on a daily regimen of 500mg Hydroxyurea and a 81mg aspirin. Sloan wrote a letter to the VA stating MDS/MPN-RS-T is incurable absent a stem cell transplant and I would be a Hydroxyurea indefinitely or until this blood cancer mutated to full blown leukemia. Turns out the standard protocol for this disease it’s a daily regimen of Hydroxyurea and aspirin for anyone over 65.

Regarding the Axonal Neuropathy- this sucker is more of a problem that the MDS/MPN-RS-T thing because it really effects my quality of life on a daily basis. The geneticists at Cornell won’t prescribe anything to alleviate the spasms and tingling until they know what my actual diagnosis is. Turns out many forms of Axonal Neuropathy are caused by gene mutations or low levels of one or more proteins. The trick is to identify which genes have mutated and what protein levels are missing or are either too low or too high. I have tried the standard drugs for nerve pain but they don’t work. So we wait for the results of the Exome Sequencing tests.

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MJPM- Many thanks for your epistle and distinct definitions. I have suffered from ET for about 3 years. You give me hope that there is a connection between Peripheral Neuropathy in my left leg and ET. Exome Sequencing tests may help my JAK2 gene mutation get some attention. I will ask my Oncologist to run the test. Thanks again for your analytical take from MIT. Please keep posting. Best Regards, Dave L.

REPLY
@dwlowrance

MJPM- Many thanks for your epistle and distinct definitions. I have suffered from ET for about 3 years. You give me hope that there is a connection between Peripheral Neuropathy in my left leg and ET. Exome Sequencing tests may help my JAK2 gene mutation get some attention. I will ask my Oncologist to run the test. Thanks again for your analytical take from MIT. Please keep posting. Best Regards, Dave L.

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The Exome Sequencing and Whole Exome tests are very expensive and many insurance companies won't pay for them because many genetic tests are considered "experimental". Cornell placed me in a research trial along with two of my daughters because we have a family history of neuropathy going back 5 generations. My daughters are starting to experience the same symptoms as me. But do ask. Not sure there is any connection between my blood cancer and my Axonal Neuropathy. Good luck.

REPLY
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