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DiscussionJak2 Detected, Healthy otherwise, What's next?
Blood Cancers & Disorders | Last Active: Sep 29, 2023 | Replies (17)Comment receiving replies
Replies to "My doctor has attributed my historically borderline high blood count to Obstructive Sleep Apnea (OSA) and..."
Welcome to Connect, @lostmonk.
High/borderline hemoglobin and hematocrit sometimes can be attributed to asleep apnea or other medical conditions which bring about a lack of oxygen to the body.
So your doctor may not have been in error with that diagnosis but there are tests which can be done to make sure that’s the case and not something underlying going on. In your case, the culprit is most likely the mutation to the JAK2 gene.
https://www.healthline.com/health/myelofibrosis/what-is-the-jak2-gene
To answer your question about this being a false positive…probably not. Polycythemia is a chronic disease that can take years to develop and progress.
I know this sounds scary but if I can be of any reassurance to you, most people with PV get along just fine with treatments. Because there’s an overproduction of red blood cells in your body it can cause some issues. So a basic treatment is to have a phlebotomy where a technician removes a designated amount of blood to bring your level down to a normal range. If this isn’t enough to do the job, there are medications which can be given to help your body control the over production of the cells.
I’m going to put a couple of links in this reply for you to check out online. These are good, informational articles which explain how Polycythemia Vera develops and potential treatments.
From Verywellhealth: https://www.verywellhealth.com/polycythemia-vera-disorder-overview-2252550
Healthline: https://www.healthline.com/health/polycythemia-vera
We have quite a few members such as @jerrlin, @cindy316 @inevanmac, @albertedward and many others in the forum who also have PV and are here to answer any questions you might have.
Here are a couple of current discussions you might find helpful:
JAK2 Mutation: Effects and Questions
https://connect.mayoclinic.org/discussion/jak2-mutation-effects-and-questions/
With members @chadknudson @ettap @sregiani @mags17
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~Polycythaemia Ruba Vera, Jak2 mutation & link to Sleep Apnea
https://connect.mayoclinic.org/discussion/polycythaemia-ruba-vera-jak2-mutation-link-to-sleep-apnea/ @mags17
Your next step should be getting an appointment with a hematologist. This is a doctor who specializes in blood disorders. And yes, a bone marrow biopsy might be ordered. This allows a sample of tissue right from blood manufacture site in the body and can give your doctor an overall picture of the health of your bone marrow and its ability to produce healthy blood products. It sounds much worse than it is.
This is not the end of your happy life. ☺️
The good news is maybe you won’t need the CPAP device.
Will you let me know what you find out from the hematologist? Do you have an appointment set?