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Does slightly elevated RBC with DNA mutations indicate MPNs?

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Patient's Query

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?
Answered by Dr. Prakash. H. M.

Education:

MBBS

Professional Bio:

Dr. Prakash H. M. is an experienced Pathologist with expertise in clinical pathology, hematology, histopathology, and cytology. He plays a crucial role in accurate disease diagnosis through laboratory testing and microscopic analysis. With a strong foundation in medical diagnostics, Dr. Prakash ensures reliable and timely reports that support effective treatment decisions. His precision and commitment to quality make him a trusted expert in the field of pathology.

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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.

Medically reviewed by Dr. Vinodhini J.
Published At March 3, 2020
Reviewed At July 25, 2023

Education:

MBBS

Professional Bio:

Dr. Prakash H. M. is an experienced Pathologist with expertise in clinical pathology, hematology, histopathology, and cytology. He plays a crucial role in accurate disease diagnosis through laboratory testing and microscopic analysis. With a strong foundation in medical diagnostics, Dr. Prakash ensures reliable and timely reports that support effective treatment decisions. His precision and commitment to quality make him a trusted expert in the field of pathology.

This doctor is not available for online consultations on the platform anymore.

Consult other doctors in the same speciality

Education:

BDS

Professional Bio:

Dr. Vinodhini J. is a Dental Surgeon with extensive years of clinical experience. She specializes in the diagnosis, prevention, and treatment of dental and oral health issues, including restorative, surgical, and cosmetic procedures. With a patient-centered approach, she focuses on maintaining oral health, alleviating discomfort, and enhancing smiles. Her expertise ensures comprehensive care tailored to each patient’s dental needs and overall wellbeing.

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Same symptoms don't mean you have the same problem. Consult a doctor now!

Dr. Prakash. H. M.
Dr. Prakash. H. M.

Hematology

Education:

MBBS

Professional Bio:

Dr. Prakash H. M. is an experienced Pathologist with expertise in clinical pathology, hematology, histopathology, and cytology. He plays a crucial role in accurate disease diagnosis through laboratory testing and microscopic analysis. With a strong foundation in medical diagnostics, Dr. Prakash ensures reliable and timely reports that support effective treatment decisions. His precision and commitment to quality make him a trusted expert in the field of pathology.

This doctor is not available for online consultations on the platform anymore.

Consult other doctors in the same speciality
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