What is a JAK2 mutation?

JAK2 is a protein linked to several receptors on blood cells. JAK2 mediates the signal that a blood cell receives in order to differentiate into a more mature cell. Receptors tell them whether to differentiate into a red cell, white cell, or platelet. When these receptors receive the signal to differentiate, JAK2 then sends the signal to the cells core to begin the differentiation process. The JAK2 mutation is found in nearly all people who have polycythemia vera, and a large number of people with essential thrombocythemia and myelofibrosis leading to excessive signaling which causes a surplus of blood cells in the body. JAK inhibitors exist to block the excess signaling and limit the excess blood cell production. At the Weill Cornell Medicine Richard T. Silver Myeloproliferative Neoplasms Center, we are continuously testing and doing research on new therapies to target the JAK2 mutation in MPN patients.

[London-zxyk]

Thanks for this, finally a clear, short and straightforward explanation.

[FoetusInYourNoodles]

FINALLY A CLEAR ANSWER.
Thank you so much.
I had a simple exam question: How do mutations in JAK2, CALR, and MPL genes result in cell proliferation?
And this is the clearest answer I've found.

[CarliDavidson]

If I have the GG version of JAK2 does that mean I will most likely need treatment for one of these diseases?

[andrewmallard]

And the way to treat this disease - venesection. I've had over 30 of these, now and it's like being stuck with a harpoon! The good thing is, blood tests are now just a walk in the park.

[greeneyes]

In plain English please. My husband is to have the JAK 2 test done next week. He has hemochromatosis. His hemoglobin stays on the very high end of normal. After having covid in January 2022, his blood sugar was messed up (he’s diabetic)—they increased his meds, his triglycerides were 699, his ferritin level went crazy. So he’s been seeing a hematologist-oncologist since. He’s gotten to the point of a phlebotomy almost every month. Yesterday his hemoglobin was 19.2, up from 17.4 in May, his hematocrit was 57.2 up from 52.4 in May, his RBC was 6.1410*6/ul up from 5.54 10*6/ul in May. He won’t let me go to the dr with him (I was working anyway), he doesn’t ask questions…….should I be worried? Help?

[amlshata]

انا اعاني من jak2 + واريد معرفة العلاج لان الطبيب لم يصف لي اي ادوية ارجو الرد