Question about mutations

Hi everyone, Just checking some info to see if i am correct. My daughter has ET, she is now seven years old she was diagnosed at four. She is JAK2 positive, does this mean she cant have the CALR mutation? I know you can have neither as well, but is it true if you have one you cant have the other?

Also, i have just heard of the MPL mutation? is this new, whats this?

3 Replies

  • Hi

    This was asked at the recent Manchester forum. The response was, no people dont have both.

    I dont think there was any real reason given, other than no one has been discovered with both. I think the fact that each mutation is so rare, that for one person to have both the odds would be massive.


  • Hi Kentuckyrain, I have passed your question through to Prof Harrison at Guy's and St Thomas' Hospital and she has said: It's very unusual to have both JAK and CALR mutations. The MPL mutation (there are several) was described in 2006. I hope this information helps, kind regards, Maz.

  • Hi Maz, thanks a mil for that its really appreciated. x

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