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ettap (@ettap)

JAK2 Mutation - Effects and Questions

Blood Cancers & Disorders | Last Active: Aug 18 10:14am | Replies (176)

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Hello @ettap and welcome to Connect. It is good to see that you have confirmed your mutation twice, but are not currently experiencing any of the symptoms. If you don't mind, I am going to give a couple of quick resources in regard to a few of your questions:

– Polycythemia vera treatment: https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/diagnosis-treatment/drc-20355855
– Essential thrombocytosis: https://www.mayoclinic.org/diseases-conditions/essential-thrombocythemia/diagnosis-treatment/drc-20361131

This is also from Mayo Clinic, "The mutation that causes polycythemia vera is thought to affect a protein switch that tells the cells to grow. Specifically, it's a mutation in the protein Janus kinase 2 (JAK2). Most people with polycythemia vera have this mutation. The cause of the mutation isn't known, but it's generally not inherited. Polycythemia vera can occur at any age, but it's more common in adults older than 60."

@ettap, if you don't mind sharing, have those three specific hematological disorders been discussed with you by your hematologist? Has he or she mentioned myelofibrosis? I am not a medical professional and am in no way diagnosing, but myelofibrosis can be a result of a JAK2 mutation as well.

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Replies to "Hello @ettap and welcome to Connect. It is good to see that you have confirmed your..."

@ettap , Great comment. Most importantly, because it pertains to me, as well!(!) Anyway, I have been dX myelofibrosis by Mayo, several years ago. I am not sure now if the dX came with the discovery of the JAK2 mutation, or the other way around. Anyway, This makes another great argument for getting a whole genome discovery, sequencing or otherwise, by a competent lab. My Gelsolin (GSN), FKTN and other stuff constantly remind me that every cell in my body is subject to the ravages of these scourges.