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Doctor insights on: Jak2 Mutation Causes

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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.

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 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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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What mutation causes haemochromatosis?

More than one: There are at least 4 different type of genes involved in hemochromatosis mutations. See this site for more info. Http://ghr. Nlm. Nih. Gov/condition/hereditary-hemochromatosis

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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.

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What type of mutation causes thalassemia?

What type of mutation causes thalassemia?

Hemoglobin: Formation is affected in thalassemia. Mutation in one or both of the genes responsible for the production of hemoglobin proteins (alpha and beta globin) lead to decreased production of these proteins, decreased hemoglobin formation and resulting anemia.

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Which type of mutation causes down syndrome?

Which type of mutation causes down syndrome?

Trisomy 21: Down syndrome is also called trisomy 21. That means that there is a partial or complete third copy of the chromosome 21. It is the most common chromosomal abnormality.

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What type of mutation causes barth syndrome?

X-linked mutation: Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. Https://www. Barthsyndrome. Org/home has information & resources.

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Which forms of leukemia are caused by a mutation?

Which forms of leukemia are caused by a mutation?

Most are due to muta: Mutations are common in all cancers. In Leukemia the very first mutation (Single mutation, causing cancer was discovered in Chronic Myelocytic Leukemia (CML). In most other Leukemias, there are multiple mutations present once we have learned how to search for them by Genomic profiling.

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Are there many factors that can cause the mutation for galactosemia?

Are there many factors that can cause the mutation for galactosemia?

Inherited: Galactosemia is a autosomal recessive inherited condition which causes you to metabolise galactose and other sugars incorrectly or differently. Autosomal recessive conditions usually come from both parent's--usually as carriers but not expresing the disease. There are many factors related to gene expression and gene abnormalities, but once you have the abnormality, it is not easy to determine.

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What happens if a condition is caused by a dominant mutation on an autosome:?

Many generations: The condition will be seen generation after generation in some individuals in the family, and will not skip generations although eventually with new family members introduced into the family children may be born without it due to the dominant allele potentially being replaced by a wild type normal allele that is not associated with the effects of the dominant mutation. Take care!

Dr. Darrin Cunningham
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