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Liz M
January 30
What's the difference between ET and ET with a CALR mutation?
Essential thrombocythemia (ET) is a condition where your bone marrow makes too many platelets. The main difference lies in the specific genetic mutation driving the disease.
ET can be caused by different genetic mutations
- About 50-60% of ET cases have a JAK2 Show Full Answer
What's the difference between ET and ET with a CALR mutation?
Essential thrombocythemia (ET) is a condition where your bone marrow makes too many platelets. The main difference lies in the specific genetic mutation driving the disease.
ET can be caused by different genetic mutations:
- About 50-60% of ET cases have a JAK2 mutation
- Roughly 5% have an MPL mutation
- Some cases have a CALR (calreticulin) mutation
- Others are "triple-negative," meaning they don't have any of these three mutations
The CALR mutation is simply one of several genetic changes that can cause ET. It affects a gene that makes a protein called calreticulin, which helps control calcium storage in cells.
While the underlying mutation differs, all types of ET involve the same basic problem: too many platelets that can lead to abnormal blood clotting or bleeding. The specific mutation you have may influence your treatment options, as knowing which genetic change is present helps doctors recommend the most effective therapies for your situation.
January 28
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