Familial Polycythemia

[Vicky_b]

Hi,I wondered if anyone could advise on what care we should be getting for familial polycythemia? my 2 children (age 24 & 27) and I were tested at Guys a few years ago for the Jak2 gene, it was negative & we were discharged. Our blood tests always show a red cell count around 5.6, Haemoglobin 160 and ESR 9.

We've never been given any information but my daughter saw her GP yesterday and discussed the blood test results, he said we clearly have familial Polycythemia and should be being checked regularly.

Any advice please?

[hunter5582]

It should have been confirmed that your family does not have a triple-negative form of PV. This could have included confirmation that a noncanonical JAK2 variant was not present. Note that there are over 50 different type of known JAK2 mutations. The role of all of these different mutations is not entirely clear. There are more thorough genetic assessments that look for mutations beyond JAK2v617f and Exon 12. Here is a bit on that topic.

mayocliniclabs.com/test-cat...

labcorp.com/tests/489555/i-...

Hereditary/Familial erythrocytosis is a different diagnosis. It requires different testing. Was this diagnosis confirmed? Here is a bit of information on this topic.

ncbi.nlm.nih.gov/pmc/articl...

medlineplus.gov/genetics/co...

mayocliniclabs.com/test-cat....

Please do let us know what you learn, even if it is confirmed that your family has a Familial Erythrocytosis rather than a MPN. We can all benefit from your knowledge and experience.

Wishing you and your family all the best.

[Vicky_b in reply to hunter5582]

Thankyou so much for all the information. I will look into it further

[Mazcd Partner MPNVoice]

HI Vicky, as the GP feels that you should be checked regularly perhaps he could arrange this for you all. It is worth asking him. Best wishes, Maz

[Vicky_b]

Thankyou, I will speak to my GP and look into it more. I might go back to Guys and ask a few questions aswell.