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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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 »

Why are my hemoglobin and hematocrit values high without any symptoms?

Query: Hello doctor, I underwent routine bloodwork during my regular gynecological checkup. It showed a hemoglobin of 16.4 g/dL and hematocrit of 47.3 %. All other laboratory values are normal, and I do not have any symptoms. I am currently on Norethindrone for birth control and Spironolactone 100 mg for ...  Read Full »

Dr. Mubashir Razzaq Khan

Answer: Hi, Welcome to icliniq.com. Elevated hemoglobin is seen in dehydration, smokers, people living at high altitudes, congestive cardiac failure, chronic obstructive pulmonary disease, erythropoietin secreting adenomas of the kidney, and rarely could be a part of primary polycythemia. I sugges...  Read Full »

Why do I have high hemoglobin and hematocrit values?

Query: Hi doctor, I am a 31 year old female. I have a history of celiac disease and a past medical history of Hodgkin's lymphoma, a stage 2 cervical lymph node and tumors in my chest. I had a blood test last week which showed B12 and folic acid deficiency, raised hemoglobin of 161 and raised hematocrit of ...  Read Full »

Dr. Parth R Goswami

Answer: Hi, Welcome to icliniq.com. You are having celiac disease in which because of malabsorption vitamin B12 deficiency and folate deficiency can occur. This deficiency also can be developed if polycythemia present in which proliferation more. Here hemoglobin and HCT is high as per history. Hence if it i...  Read Full »

Does a positive JAK 2 test indicate malignancy?

Query: Hi doctor, May I please have your opinion about the downloaded pathology results taken during a hospital admission? A couple of years earlier, there was a firm diagnosis of JAK 2 overlap myeloproliferative or myelodysplastic disorder. In your view, do the pathology results indicate an acute transfo...  Read Full »

Dr. Aniket

Answer: Hi, Welcome to icliniq.com. I am sorry to say that the reports you have updated are, unfortunately, a document of COVID-19 (coronavirus disease 2019) information. Can you please give me more information about the same and send your detailed CBC (complete blood count) and marrow reports with JAK 2 ...  Read Full »

In what cases high platelet count is noticed?

Query: Hello doctor. I just had a CBC done where my platelet count was 498. My last one was 423 about a year ago. I have not been feeling well lately with a sore throat and swollen lymph nodes. I also had the second COVID vaccine two weeks ago, and I was told that it could be the cause of the swollen lymp...  Read Full »

Dr. Mubashir Razzaq Khan

Answer: Hi, Welcome to icliniq.com. Elevated platelets: Grade 1 thrombocytosis: platelets 550-649. Grade 2 thrombocytosis: platelets 650-749. Grade 3 thrombocytosis: platelets 750-849. Grade 4 thrombocytosis: platelets 850-1099. Grade 5 thrombocytosis: platelets 1100 or more. Elevated platelets are ...  Read Full »

Does the presence of JAK2 gene mutation automatically rule out CML?

Query: Hi doctor, My platelet has always been high in the range of 600 to 700 x 10"9/L. My other blood count is within the normal range as of today. Ten years ago, I had two BCR or ABL test (peripheral blood) to rule out CML; one test came back positive, the other negative. Which test should I believe? Th...  Read Full »

Dr. Parth R Goswami

Answer: Hello, Welcome to icliniq.com. I can understand your concern. Do not worry. I will try to answer all of your questions. Following is my answers and opinion to your questions. RT PCR (Reverse transcriptase-polymerase chain reaction) is a highly accurate test to check BCR ABL mutation to rule out...  Read Full »

I have increased RBC along with decreased MCV and MCH. What could be the reason?

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. Parth R Goswami

Answer: Hi, Welcome to icliniq.com. 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 myeloproliferative...  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 »

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

Query: Hello doctor, I am writing this for my brother. He is a diabetic and taking medicine from the last three years. He recently came to home for a short vacation and undergone health check-ups. After studying the reports, our family doctor pointed out certain elevated values like Hb, etc., and su...  Read Full »

Dr. Parth R Goswami

Answer: Hello, Welcome to icliniq.com. I have read the attached report of your brother (attachment removed to protect patient identity). The main abnormal finding in CBC report is elevated red blood cells count and PCV. The hemoglobin level is also raised slightly. So, it is suggestive of polycythemia. It...  Read Full »

I am diagnosed with polycythemia (JAK 2 negative). Kindly explain.

Query: Hello doctor, I am diagnosed with polycythemia (JAK 2 negative). I need more knowledge, my BM and JAK 2 studies are within normal limit.  Read Full »

Dr. Parth R Goswami

Answer: Hello, Welcome to icliniq.com. Your present CBC report is not suggestive of polycythemia especially polycythemia vera which is blood cancer condition (attachment removed to protect patient identity). Your JAK 2, EXON 12 study and bone marrow report is normal as per history. So polycythemia vera is...  Read Full »

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