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Is Polycythemia Vera inherited?
My brother was diagnosed with Polycythemia Vera last December. His diagnosis came after having a stroke at 49 years old. That led to his abnormal CBC and the presumtion that he had PV. The JAK2 test came out negative so he was diagnosed with a bone biopsy. At the time i was having medical problems and also abnormal CBC's, and no diagnosis until i was sent to a Hematologist/Oncologist. Being aware that my brother had Polycythemia Vera she immidiately tested me for the JAK2 gene mutation, in which strangely came out positive. So, not only does my brother have PV, I do but what i don't understand and which is driving me nuts because there is no information online, is;
1) Is this an Inherited disease or not, because i am getting so many different answers for this. One says this gene mutation is inherited and one says its not but how is it possible we both have the disease, in which is very rare in the first place, yet if the gene mutation IS inherited then .........
2) How is it possible that both my brother and I have the disease but one is positive for the gene mutation or the JAK2 gene mutation, and one of us in negative for this mutation?
This is driving me nuts! If anyone can answer me id apprieciate it so much!!
Thank You, Gloria
(ps; so sorry about the spelling)
1) Is this an Inherited disease or not, because i am getting so many different answers for this. One says this gene mutation is inherited and one says its not but how is it possible we both have the disease, in which is very rare in the first place, yet if the gene mutation IS inherited then .........
2) How is it possible that both my brother and I have the disease but one is positive for the gene mutation or the JAK2 gene mutation, and one of us in negative for this mutation?
This is driving me nuts! If anyone can answer me id apprieciate it so much!!
Thank You, Gloria
(ps; so sorry about the spelling)
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Thank You so much for the response and my apologies for the delay. I actually forgot I had posted and I guess missed the notification at some point. I had been extremely ill for a good 2-3 years before I began doing my own research. I was with a doctor who was NOT a specialist in this area (HUGE MISTAKE FOR ANY MPN DX) and because of this I ended up with severe Iron Deficiency Anemia causing a host of issues that took me down. But I changed to a specialist and was feeling better within the month after 2-3 years of misery. Im interested in your answer. I don't know much about the specific details of the JAK2 gene mutation. It will take a few but Im going to get some more information. Thank You again
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It is possible that there's a different gene mutation involved in your brother's case?
TET2 is frequently mutated in myeloproliferative disorders (MPD). These constitute a heterogeneous group of disorders, also known as myeloproliferative diseases or myeloproliferative neoplasms (MPN), characterized by cellular proliferation of one or more hematologic cell lines in the peripheral blood, distinct from acute leukemia. Included diseases are: essential thrombocythemia,--- polycythemia vera---, primary myelofibrosis (chronic idiopathic myelofibrosis). Bone marrow samples from patients display uniformly low levels of hmC in genomic DNA compared to bone marrow samples from healthy controls as well as hypomethylation relative to controls at the majority of differentially methylated CpG sites.
Please provide more specific details about your JAK2 gene mutation.
Not all gene mutations result in disease development.
That is the reason we don't call them gene defects, I guess.
There many other factors involved in disease processes other than genes.
Best wishes,
Niko