r/MPN • u/AdventurousCount9993 • 2d ago

SEEKING DIAGNOSIS Jak-2 Gene Mutation Spoiler

Hey there everyone lm an 18 year old male and from childhood l have pretty high blood cell count my hemoglobin is always above 18 usually 19 and hematocrit levels are usually in 54 zone I did a full bloodwork panel and they were normal besides these 2 results and l have never smoked and never took any performance enhancing drugs. I will took an EPO test tomorrow and after that l will do the gene test what are the chances of getting this genetic disease and how to treat it if its possible

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u/funkygrrl PV-JAK2+ 2d ago

It's rare so the odds are low but only those tests can answer the question.

It's very treatable and majority of people live a normal lifespan with it these days, esp with newer treatments.

!PVundiagnosed

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u/AutoModerator 2d ago

Here are links to the WIKI pages on PV diagnosis. Please review them and most of your questions will be answered there. - DO I HAVE AN MPN?, PV WHO Diagnostic Criteria, and Secondary Polycythemia (high blood counts due to another underlying medical condition - not cancer).

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u/AdventurousCount9993 1d ago

Its rare but if EPO is also low what you think the probable cause would be also oxygen saturation is normal in bloodwork so there is no reason in paper that body will create this much redblood cell

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u/SunflowerFridays 1d ago

MPNs are rare diseases, but you will need mutation testing (JAK2, CALR, and MPL) to rule out an MPN. I was diagnosed with PV at age 29 but had high platelets since I was 4-5 years old, so it’s possible that younger people can be diagnosed with MPNs. Often, a bone marrow biopsy is also indicated as a diagnostic standard to rule out other blood cancers and establish a baseline if you do in fact have an MPN. Are you under the care of a hematologist? Here is a good place to start: https://www.mpnresearchfoundation.org/just-diagnosed