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Doctor insights on: Jak2 Mutation Treatment

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I tested positive for a JAK2 mutation on a blood test and when my marrow was tested the JAK2 mutation was not found. How can this be?

I tested positive for a JAK2 mutation on a blood test and when my marrow was tested the JAK2 mutation was not found. How can this be?

Borderline result?: You are correct to wonder how a genetic test that is positive in blood can be negative in marrow, because a marrow aspirate is around 50% blood. If a blood test was borderline to begin with (due to a low percentage of positive cells), or if it was a false positive, then it may turn up negative in the marrow. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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What will happen to patient with positive jak2 mutation assay? Thank you

What will happen to patient with positive jak2 mutation assay? Thank you

Needs more workup: Hi many different types of myeloproliferative diseases can have a positive jak-2 mutation. If possible please can you tell me more. Thanks. ...Read more

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I have ET with Jak2 mutation. What should I be concerned about and is it cancer? My Hemo says no but others say yes??

I have ET with Jak2 mutation. What should I be concerned about and is it cancer? My Hemo says no but others say yes??

By definition: All monoclonal overgrowths of blood cells are cancer by definition, since they spread and invade -- that's what blood does. This being said, essential thrombocythemia is as tame a cancer as one can have, and last I heard, doesn't even shorten life expectancy. Keep an eye on it. ...Read more

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What is the definition or description of: jak2 mutation?

What is the definition or description of: jak2 mutation?

See below: The jak2 mutation is a genetic change found in about 9 out of 10 people with
polycythemia vera (pv).
Jak2 is part of a signaling system (like a thermostat) that helps tell the bone marrow when to start and stop making blood cells. Most people with pv have acquired a mutation (change) in their jak2. Because of this change, the bone marrow makes too many blood cells. ...Read more

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What is the prognostic significance of a jak2 mutation in a person without the defining criteria for a myeloproliferative disorder?

What is the prognostic significance of a jak2 mutation in a person without the defining criteria for a myeloproliferative disorder?

Need close follow-up: The specificity of the jak2 v617f pcr test for the diagnosis of myelpproliferative disorder is very high, near 100%. After excluding sample mix-up, any patient with a positive jak2 mutation should be carefully followed for the development of polycythemia vera, myelofibrosis, or essential throbocythemia. ...Read more

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My husband has PVT and is 32 yrs old. He tested + for Jak2 mutation. I would just like any info on others with the same condition, prognosis, etc.?

My husband has PVT and is 32 yrs old. He tested + for Jak2 mutation. I would just like any info on others with the same condition, prognosis, etc.?

Need more info: Because the human body reacts in findings like this his history is very important to answer this question. Call the physician who ordered this test for an accurate answer. ...Read more

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Is there a correlation between sickle cell and the jak2 mutation?

It doesn't appear so: I can find no reports of an association between sickle cell anemia and jak2 mutations. Jak2 is a gene involved in promoting growth of red blood cells. The confusion may have arisen from some reports suggesting that stimulators of jak2 might be useful in gene therapy treatments for sickle cell disease. ...Read more

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I tested positive for a JAK2 mutation on a blood test and when my marrow was tested the JAK2 mutation was not found. How can this be?

Borderline result?: You are correct to wonder how a genetic test that is positive in blood can be negative in marrow, because a marrow aspirate is around 50% blood. If a blood test was borderline to begin with (due to a low percentage of positive cells), or if it was a false positive, then it may turn up negative in the marrow. ...Read more

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My platelet count is 631 mpv is 6 3 I don t have the jak2 mutation should I be worried?

My platelet count is 631 mpv is 6 3 I don t have the jak2 mutation should I be worried?

MPN: Likely you have a myeloproliferative neoplasme. Sounds like you have already been seen by a hematologist. If not, you should see one- to determine which condition under myeloproliferative neoplasm group that you have and for further management. Jak2 mutation is majority found in polycythemia vera, 50% in essential thrombocythemia and 40% in myelofibrosis. D/w hematologist in detail. ...Read more

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Hi, I'm not really sure how this service works, but I'm going to send my question and see what happens. I have been having fertility treatment and was recently diagnosed with the homozygous C665T MTHFR gene mutation. There is a lot of conflicting inform

Hi, I'm not really sure how this service works, but I'm going to send my question and see what happens. I have been having fertility treatment and was recently diagnosed with the homozygous C665T MTHFR gene mutation. There is a lot of conflicting inform

Sorry I: Cannot offer more help than this:
The "story" is still "OUT" and this gene abnormality has now been blamed for just about EVERYTHING from early heart disease to frequent miscarriages! I would be VERY CAUTIOUS about accepting ANY ADVICE particularly the INTERNET about this "condition" If this is a MAJOR issue consult with a Board Certified GENETICIST! My Opinion only...hope it helps. Good Luck Z ...Read more

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Cystic fibrosis - mutations/abnormal cell growth, could treatment be related to the cause of cf?

Confusing question: Your question is unclear. CF is caused by a mutation that is expressed as an autosomal recessive genetic disorder. What your question about it is vague at best. Please start over and be specific about what you are asking. Questions are not linked, so start over. ...Read more

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Do all mthfr gene mutations benefit from folate over folic acid? Or certain stands? Is there different treatment for heterozygous v homozygous?

MTHFR: MTHFR has several forms. And treatments can vary.
Look here for additional information.
http://mthfr. Net/mthfr-c677t-mutation-basic-protocol/2012/02/24/ ...Read more

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Will all exposure to radiation during treatments for tumors cause damage to DNA or is it possible that the DNA are not affected (no mutations, etc.)?

Will all exposure to radiation during treatments for tumors cause damage to DNA or is it possible that the DNA are not affected (no mutations, etc.)?

Yes it may: Radiation treatment can cause damage to surrounding areas. It may put you at risk for cancer in the future as well. Normally the risk/benefit ratio of radiation treatment is taken into account to treat the tumor now. ...Read more

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Do exposure to radiation during treatments for tumors always cause damage to DNA or is it possible that the DNA are not affected (no mutations, etc.)?

Do exposure to radiation during treatments for tumors always cause damage to DNA or is it possible that the DNA are not affected (no mutations, etc.)?

Yes,: Ionizing radiation can cause variety of different dna damages. Radiosensitivity differs in different cell type and tumors. Usually fasting deviding cell types are more susciptible to radiation-induced dna damage during cell proliferation. However, our cells also have an elegant dna damage repair system. Most of the cells can repair the damage by 30 min following exposure to 15 gy radiation. ...Read more

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Are there any gene therapies available to treat infectious diseases and if so, is it possible for mutations to create a immunity to the therapy?

Are there any gene therapies available to treat infectious diseases and if so, is it possible for mutations to create a immunity to the therapy?

Not there yet: Good question- the short answer is no. Major hurdles are still being worked out such as how to deliver or alter a gene so it doesn't harm the patient, as well as avoiding mutations that will will offset the benefits of gene therapy. ...Read more

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Hello, I am twice I have abortion and I made Androgen analysis and this is the result (Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it thank

Hello, I am twice I have abortion and I made Androgen analysis and this is the result (Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it thank

Not Standard Care: Doctors in the US generally do not send genetic analyses as detailed as yours b/c we do not fully know what to do with results like that which may not bear significance on future pregnancies. We usually examine chromosomes but not genes. Is that genetic analysis from YOU or from the remnants of the pregnancy? For more information, see a genetic counselor. ...Read more

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What is the definition or description of: mutation?

What is the definition or description of: mutation?

Mutation is a change: In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna by mobile genetic elements. ...Read more

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How would mutations have both positive and negative impacts?

Good and bad effects: Mutations are genetic changes that can eliminate a problem, cause a problem or introduce a new solution to the environment. Since most mutations create problems, they have achieved a bad name. But most evolutionary change comes about from the effects of new mutations. ...Read more

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Best treatment for sea dickmess?

Best treatment for sea dickmess?

Antihistamines: For sea sickness:
dramamine (dimenhydrinate) is the most commonly used one. Other are Diphenhydramine (benadryl) and meclizine.

In order to prevent sea sickness you need to take them before you start feeling sick, preferably before you get on a boat. Meclizine has less of a drowsiness effect, the rest may make you drowsy. ...Read more

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Treatment for multi objects vision?

Treatment for multi objects vision?

Polyopia: There are multiple causes for this and you need an eye exam to help reach a diagnosis. Sometimes neurology also has to be involved. Good luck. ...Read more

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What is the best treatment for cold?

What is the best treatment for cold?

Boost immunity: 1. Throat coat liquorice tea: several times/day
2. Megafood Megaflora plus probiotics 4 caps 2 times/day for 1 week.
3. Sunshine for 30-45 minutes daily at noon or Vitamin D3 10, 000 IU/day (NOW brand is good)
4. Zinc supplement 50 mg/day (NOW brand is good) with food for 7-10 days
5. No milk products for 10-15 days ...Read more

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How can mutations create new traits?

New protein: Most mutations are problematic and create difficulty or are eliminate with normal bodily defenses. Rarely a mutation makes a new protein which has a useful function manifested as a change in the body or metabolism which confers and advantage and will therefore likely survive to the next generation. ...Read more

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What is the best treatment for shock?

What is the best treatment for shock?

Find the cause.: Shock is a general term that refers to a condition where the body is trying desperately to maintain stability of normal vital signs, but failing. There are several major types of shock, depending on the reason for the condition. Trauma, infection, spinal cord injury, and cardiac failure are some of the more typical reasons. The best treatment differs for each category. ...Read more

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What are the treatment of cloudy sight?

What are the treatment of cloudy sight?

Depends: There are many causes for cloudy sight and the treatment depends upon what is the cause. Treatments include medication, surgery, eyeglasses, contact lenses and unfortunately, for a few conditions, no treatment. Your ophthalmologist can sort this out for you. V. ...Read more

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What type of mutation causes hemophilia?

What type of mutation causes hemophilia?

Hemophilia: A mutation on the x chromosome that affects the blood clotting factors viii or ix. ...Read more

Dr. Milroy Samuel
12 Doctors shared insights

Jak2 Mutation (Definition)

The jak2 mutation is a genetic change found in about 9 out of 10 people with polycythemia vera (pv). Jak2 is part of a signaling system (like a thermostat) that helps tell the bone marrow when to start and stop making blood cells. Most people with pv have acquired a mutation (change) in their jak2. Because of this change, the bone marrow makes ...Read more