Common "Jak 2 Mutation" queries answered by top doctors | iCliniq

Jak 2 Mutation

Jak2 mutation is an acquired somatic mutation occurring in patients with myeloproliferative cancer. They result in the production of activated Jak protein. They help in improving the survival of cells and increases the production of blood cells. Thus abnormal blood clots are formed. Jak2 inhibitors, chemotherapy, and stem cell transplantation help to cure this condition.

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I have high RBC count, low MCV, and MCH. Why?

Query: Hi doctor, If my complete blood count has high RBC value and low MCV and MCH values, what is the possible diagnosis for me?  Read Full »


Dr. Goswami Parth Rajendragiri

Answer: Hi, Welcome to icliniq.com. 1. High RBC count is called polycythemia. If it is persistently high, then the cause should be evaluated. Respiratory causes like COPD (chronic obstructive pulmonary disease) and cardiac causes can lead to secondary polycythemia. Primary polycythemia is a myeloprolifera...  Read Full »

Should I undergo further evaluation for polycythemia?

Query: Hello doctor, I am 27 years old male, 6 feet, and 180 lbs. I started a new job and the life insurance company wanted me to take a blood test. The results are attached. My blood test shows a low erythropoietin of 4.4 U/L (normal range 4.3 to 29) and high red blood cell count of 5.6x10^12/L (normal ra...  Read Full »


Dr. Girish Chandrakant Kamat

Answer: Hello, Welcome to icliniq.com. Your hemogram and erythropoietinlevels are normal. I would not evaluate you any further. They should not have asked for a hematology consultation, but if it is mandatory, get it done. All the best and do well in your new job.   Read Full »

Will quitting alcohol and cigarettes improve my blood tests?

Query: Hello doctor, I am suffering from hypertension since few years, and I am currently on medication Telmisartan. I am an alcoholic and smoker, and I smoke approximately 15 cigarettes a day for the last five years. My current CBC report suggests high RBC, hemoglobin, and PCV. Though it reduced slightly ...  Read Full »


Dr. Goswami Parth Rajendragiri

Answer: Hi,Welcome to icliniq.com.I have gone through your attached reports (attachment removed to protect patient identity).The diagnosis is polycythemia. Polycythemia can be secondary or primary. Secondary polycythemia occurs because of hypoxia, which activates the oxygen sensor and more erythropoietin is...  Read Full »

My wife has a JAK2 positive myeloproliferative neoplasm with thrombocytosis. What does it mean?

Query: Hi doctor, My wife has a JAK2 (Janus kinase 2) positive myeloproliferative neoplasm with thrombocytosis, likely essential thrombocytosis. What does that mean? Does she have cancer or not? I need a fast and accurate answer. Does this mean she has cancer or not? What is life expectancy? Is there any ...  Read Full »


Dr. Mubashir Razzaq Khan

Answer: Hi, Welcome to icliniq.com. I am a hematologist with 20 years of experience. I hope you and your family are doing well in this pandemic. JAK2 positive myeloproliferative neoplasms mean it is some cancer. JAK2 is a mutation in a gene that leads to unlimited production of platelets in your ca...  Read Full »

I have a high platelet count. what could be the reason?

Query: Hi doctor, I am a 46-year-old diabetic female. My platelet count is high at 900,000 per microliter of blood in routine CBC. My iron is normal. My USG showed hepatosplenomegaly and PBS showed microcytic hypochromic anisocytosis. What shall I do now?  Read Full »


Dr. Veerendra Channabasappa Patil

Answer: Hello, Welcome to icliniq.com. The platelet count is above the normal range. There are many reasons for such elevated platelet count. It needs further investigations, including genetic tests. The conditions like essential thrombocytosis could be considered with the available information from you....  Read Full »

Is JAK2 mutation a life-threatening condition?

Query: Hi doctor, I understand that JAK2 myeloproliferative or myelodysplastic overlap disorder is life-threatening if it turns into an acute transformation. However, in your opinion, is the condition generally considered life-threatening when there has not yet been a severe transformation? That is when i...  Read Full »


Dr. Pooja Pardhi

Answer: Hi, Welcome to icliniq.com. I have gone through your query. JAK2 mutations are severe conditions if they undergo an acute transformation. It means the cells in our body, especially the precursors of our blood cells (red blood cells, white blood cells, and platelets), start proliferating suddenly ...  Read Full »

Can you tell me more about the IDH2 gene mutation?

Query: Hello doctor, My preliminary diagnosis was essential thrombocythemia. They did genetic testing it showed JAK2 mutation (v617f) at about a 25 % allele burden. However, it also came back showing an IDH2 mutation. This tends to be found more in brain tumors and acute myeloid leukemia. The mutations fo...  Read Full »


Dr. Mubashir Razzaq Khan

Answer: Hello, Welcome to icliniq.com. Thank you for your query. Elevated platelets are seen in iron deficiency anemia, post-splenectomy, acute blood loss, multicentric castleman disease, CML, 5q syndrome, primary myelofibrosis, rheumatologic, inflammation, drug-induced, and very rarely, it could be a part ...  Read Full »

I have a family history of the JAK2 mutation. Please help.

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 week...  Read Full »


Dr. Singh Smrita

Answer: 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 yo...  Read Full »

My CBC values vary when checked manually and through an analyzer. I was suggested to do JAK 2 tests. Kindly help.

Query: Hello doctor,I checked my CBC both manually as well as through the analyzer. There is a variation in the values of the two by three points. I am confused. The results are as follows:Analyzer results -16.9.Manual results -13.4.My doctor suggested doing JAK 2 tests for further investigation. Kindly he...  Read Full »


Dr. Goswami Parth Rajendragiri

Answer: Hello, Welcome to icliniq.com. I completely understand your concern. Let us discuss how to solve it. Please note that you have not mentioned which parameter you have measured. Is it Hb (hemoglobin) estimation or total WBC (white blood cell) count? Hb estimation is done only through the colorimeter m...  Read Full »

What is your opinion on the attached blood report of a diabetic patient?

Query: Hello doctor,I am writing this for my brother. He has diabetes and has been taking medicine for the last three years. He recently came home for a short vacation and underwent health check-ups. After studying the reports, our family doctor pointed out elevated values like hemoglobin. The doctor sugge...  Read Full »


Dr. Goswami Parth Rajendragiri

Answer: Hello, Welcome to icliniq.com. I understand your concern. I have read the attached report of your brother (attachment removed to protect patient identity). The main abnormal findings in the CBC (complete blood count) report are elevated red blood cells and PCV (packed cell volume). The hemoglobin le...  Read Full »

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