Does slightly elevated RBC with DNA mutations indicate MPNs?

Question

Hello doctor,

For three years, my RBC has been slightly elevated (~4.9). My DNA results show a homozygous GG genotype for SNP rs12340895 of the JAK2 gene indicating greatly increased odds of developing JAK2 V617F-positive MPN. I have no symptoms and I am in good health. Should I see a hematologist to establish a baseline and periodically monitor for MPNs?

Answer 1

Hi,

Welcome to icliniq.com.

Based on your query, my opinion is as follows:

Numerous DNA mutations are always present and it is difficult to monitor for any specific malignancy. However, speaking specifically, the mutation you have described can be seen in 50% of the normal population, which is very high considering the percentage of MPN prevalence.

A higher RBC count can be seen due to high altitude, lung problems, smokers, athletes, etc. RBC count above 6 would suggest a possible risk. 4.9 is too low to comment and the only thing, I can comment on is it is very good hemoglobin levels.

Based on your BMI, I would consider you to be physically fit and this RBC count should be appropriate. Not to worry, no monitoring is necessary for now. An annual checkup of a complete hemogram should be adequate.

I hope this helps.