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brother and sister both Polycythemia Vera positive 1 + JAK2 and 1 -JAK2

How to get a copy of the form 180 to apply but we need more paticular information for Gudja

I don't know if anyone can answer this but here goes....I was just diagnosed with Polycythemia Vera. This is a slow growing blood cancer. I have struggled with a great deal of health problems and was going crazy trying to figure out what, if any, was wrong with me. I only found out because my brother had 2 strokes a year and a half ago and was diagnosed with Polycythemia vera 8 months ago.  So we both have it.

My question is this.... My brother did not have the gene mutation that at least 80% of the people have with PV. They found it with a bone biopsy. In my case, my doctors knew he was PV positive tested me for the gene mutation after a series of abnormal blood chemitry tests. I came out positive.  

How, in one family did we both come out positive but one had the JAK2 gene mutation and one of us did not? I can not find anything that references this on line and nobody seems to know the answer but to me, its either a medical anomily or there is a simple reason. Thank you, gloria
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Avatar universal
Sorry i realize my edit was a bit off. The first lines can be deleted. The paragraph in which begins with  "How to get ..... for Gudja" It has nothing to do with the question. sorry
Avatar universal
JAK2 most often undergoes somatic mutations, i.e. some of your cells have a healthy DNA, the others not. It's usually not inherited, although rare germline (heritable), mutations are also possible, which can be detected by sequencing. As you know, some people even have PV without a mutation. It's indeed strange that you and your brother acquired the same disease in a different pattern, but as you can see, not impossible. The good news is that properly treated PV has a good prognosis, and if you have children, they can't inherit a somatic mutation. The same holds true for your brother's family, as he has no known mutation at all.
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