Mutations

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Mutations
« on: August 12, 2015, 03:54:11 PM »
Hello,
   I just got the results of my sons DNA testing and I was wondering if anyone ever heard of a Polymorphism called Xmn I at nt 158. It says that it can sometimes cause elevated Fetal hemoglobin. Does anyone have any information on this?

Lisa

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Offline Andy Battaglia

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Re: Mutations
« Reply #1 on: August 17, 2015, 03:12:58 PM »
Lisa,

That is often checked in thals, as its presence often means that the patient will produce fetal hemoglobin, which means attempts to raise HbF through drugs like hydroxyurea and natural substances like wheatgrass will have more chance of success.
Andy

All we are saying is give thals a chance.

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Offline Nomad

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Re: Mutations
« Reply #2 on: August 17, 2015, 06:59:48 PM »
Andy does wheatgrass bring any benefit for B0/B+ Thalassaemics ?
I actually tried it once but had have a lot gas in my stomach.

Re: Mutations
« Reply #3 on: August 18, 2015, 01:46:41 PM »
Andy,
   It also said that he was:

   heterozygous for the minor allele C>T on chromosome 11p15.
   heterozygous for the minor allele A>C on chromosome 2p16.
   heterozygous for the minor allele T>C on chromosome 6q23.
   heterozygous for the 3-bp deletion and
   heterozygous for promoter nt-188 C>G
   heterozygous for codon 102 TCC>CCC or SER 102 Pro.

 I'm not sure what any of this means. I meet with the doctor on Friday of this week. Is there anything that I should ask him regarding these results?
Is there anything you can tell me about this?

Thanks,
Lisa

 

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