HomeAnswersHematologyhigh vitamin b12I have a family history of the JAK2 mutation. Please help.

How does elevated vitamin B12 relate to JAK2 mutation and cancer?

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The following is an actual conversation between an iCliniq user and a doctor that has been reviewed and published as a Premium Q&A.

Answered by

Dr. Singh Smrita

Medically reviewed by

iCliniq medical review team

Published At June 6, 2022
Reviewed AtOctober 10, 2023

Patient's Query

Hello doctor,

I am a 54-year-old female. My vitamin B12 was 2000 this week. I do not take any supplements. I also have hypopituitarism, and I do not know if it is related. I have a strong genetic predisposition to develop JAK2 (Janus kinase) and blood disorders. I have lost five pounds in three weeks. I am having dizziness and feel very tired. My endocrine laboratory reports are normal, except for borderline cortisol, but I have had this issue for over a year. We have a family history of cancer like three generations in maternal (mother, grandfather, great-grandmother) and paternal aunty. Three of four people are deceased due to cancer. Should I have follow-up blood work, and what should I request?

Answered by Dr. Singh Smrita

Hello,

Welcome to icliniq.com.

Increased vitamin B12 levels in the absence of supplementation can be seen in liver disease and myeloproliferative disorders like polycythemia vera.

I suggest you have liver function tests and a hemogram done initially. If your liver function tests are normal and your hemogram shows elevated hemoglobin levels with an increase in the cell counts, you should go for a bone marrow biopsy and get tested for the JAK2 mutation.

Thank you.

Patient's Query

Hello doctor,

Thank you for the reply.

I had the liver test, and it is normal. The only odd thing in my blood work is MPV, which is 7.1, a bit low, and my NRBC (nucleated red blood cell) was over 1. Should I do any further testing like a blood smear or forget it since I only have other values that are slightly odd? I feel very tired, and my sternum has been tender for two months.

Answered by Dr. Singh Smrita

Hello,

Welcome back to icliniq.com.

I would suggest that you test for a bone marrow biopsy. If the picture is suggestive of myeloproliferative neoplasm, you should get the test for the JAK2 mutation and a complete evaluation by a hematologist. It is essential to rule out myeloproliferative neoplasm since its presence requires proper treatment.

Patient's Query

Hello doctor,

Thank you for the reply.

I guess it is better to be safe than sorry. I appreciate your advice and wish you a pleasant day.

Answered by Dr. Singh Smrita

Hello,

Welcome back to icliniq.com.

I am glad you had a good experience.

Thank you.

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

Dr. Singh Smrita
Dr. Singh Smrita

Hematology

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