This article highlights the causes of JAK2 mutations and the common disorders they cause.
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What Causes JAK2 Gene Mutations?
Rather than being inherited,JAK2V617Fmutations are acquired, occurring at random.
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This causes the JAK2 protein to be constantly switched “on,” leading to uncontrolled blood cell production.
The increase in blood cells makes your blood thicker, which can lead to an increase in blood clots.
This can cause strokes or tissue and organ damage.JAK2 V617F mutations are present in 96% of PV cases.
Like PV, ET is also a myeloproliferative neoplasm.
Risk factors associated with ET include gender and age.
It occurs in females 1.5 times more often than in males.
It’s more common in people older than 60, but one-fifth of people with ET are under 40.
There may be no symptoms with ET and instead, it is found on routine blood tests.
If there are symptoms, they are due to the effects of clotting in small blood vessels or bleeding.
Treatments for ET vary depending on a person’s symptoms.
This leads to chronic inflammation and the replacement of bone marrow with fibrous (scar) tissue.
The disorder develops when a mutation occurs in the DNA of a single hematopoietic stem cell.
When mutated blood cells replicate and divide, they pass the mutation to new cells.
Eventually, abnormal cells overtake the bone marrow’s ability to produce enough blood cells.
Exposure to petrochemicals like benzene and toluene may also increase the risk of developing the disease.
Common treatments of PMF include JAK inhibitors and allogeneic stem cell transplantation.
JAK inhibitorsare used to reduce the activity of JAK family genes.
Inrebic(fedratinib) inhibits JAK2, and Jakafi(ruxolitinib) partially inhibits JAK2 and JAK1.
However, side effects, like decreased platelets or worsening anemia, have been reported.
You may also experience bruising, dizziness, or headaches.
This is known as engraftment.
The inflammation can also lead to intestinal blockages and ulcers.
Healthcare providers may also recommend bowel rest (not eating and only drinking specific liquids) and surgery.
The JAK2 V617F mutation can be found in 2652% of people with classical Budd-Chiari syndrome.
The most common causes of the condition are MPNs such as polycythemia vera.
The JAK2 protein is important for controlling blood cell production from hematopoietic (blood-forming) stem cells.
The most commonJAK2mutation associated with blood disorders isJAK2 V617F.
It causes JAK2 protein production to be constantly switched “on,” leading to uncontrolled blood cell production.
Treatments differ based on the punch in of MPN a person has.
MPNs most commonly associated withJAK2mutations include polycythemia vera, essential thrombocythemia, and primary myelofibrosis.
This association may offer a new way to treat the condition.
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