Hi - I'm new to the site however I'm trying to learn fast I will try and keep this as brief as possible.
My Grandfather and Father had Pernicious Anaemia and my father received B12 shots for 25 years before he passed away. I'm a 45 year old male and over the last 2 years I have been showing signs of potential PA (or B12 deficiency ?). I won't bore you with all my symptoms as it could also take a while.
So far, the Doctors have not agreed that my symptoms are related to B12 deficiency as my B12 levels in the blood are "normal" at 400. I have tested negative for Intrinsic Factor and Homocysteine & Methyl malonic Acid levels are also fine. All other blood tests are ok but I have tested POSITIVE for Parietal Cell Antibodies. However despite this, symptoms and family history my Doctors are refusing to treat me for suspected B12 deficiency. I 'm aware that B12 in the blood is almost irrelevant as it's what's in the cells that's important however this seems to be ignored by my Doctors. I have also presented a copy of the British Journal of Haematology to my Doctor however he is refusing to follow these guidelines. To take the edge of my symptoms I have been taking Methyl cobalamin sublingual and Methyl Folate daily.
Anyway, the reason for my post is that I now have my 23andme results and I have run the raw data through genetic genie which show mutations at critical areas in the Methylation process. These are...
MTHFR C677T RS1801133 AG (+/-)
MTHFR A1298C RS1801131 GT (+/-)
I believe that makes me compound Heterozygous and I also have mutations on the following required for effective methylation.
MTR A2756G RS1805087 AG (+/-)
MTRR A66G RS1801394 AG (+/-)
MTRR A664A RS1802059 AG (+/-)
BHMT-02 RS567754 CT (+/-)
BHMT-08 RS651852 TT (+/+)
My TCN1 and TCN2 results are as follows, however I'm not sure if these are "mutations" as they are out with the report given by Genetic Genie.
TCN2
RS16988828 AG, RS9621047 AG, RS9606756 AA, RS740234 AA, i5004509 TT, RS1801198 CG, RS5749135 CT, RS2283873 GG, RS9621049 CG, RS4820886 TT, RS2301955 CT, RS10418 CT
TCN1
RS117699377 CC, i6042918 II, RS557564 CC, RS141411985 GG, RS61903593 AG, RS526934 AG, i6042919
Obviously a lot of information to take in but I guess the questions I have are....
1/ Do these Mutations point to a problem in my Methylation process and what does this mean for me ?
2/ If so, how do I prove this to my Doctor - Are there any medical Journals / reports that I can present to him to explain this and that I'm not mad ?
3/ Are there any mutations / issues with my TCN1 and TCN2 results and if so how do I prove this ?
4/ Are there any Doctors (preferably in the UK) that could help me prepare a report to my GP with my Genetic results ?
5/ Any other "basic" information / videos to help a "newbie" get up to speed on the BASICS would be appreciated.
Thanks in advance of any help provided and apologies if any of my questions / points are deemed to be basic.
A.
My Grandfather and Father had Pernicious Anaemia and my father received B12 shots for 25 years before he passed away. I'm a 45 year old male and over the last 2 years I have been showing signs of potential PA (or B12 deficiency ?). I won't bore you with all my symptoms as it could also take a while.
So far, the Doctors have not agreed that my symptoms are related to B12 deficiency as my B12 levels in the blood are "normal" at 400. I have tested negative for Intrinsic Factor and Homocysteine & Methyl malonic Acid levels are also fine. All other blood tests are ok but I have tested POSITIVE for Parietal Cell Antibodies. However despite this, symptoms and family history my Doctors are refusing to treat me for suspected B12 deficiency. I 'm aware that B12 in the blood is almost irrelevant as it's what's in the cells that's important however this seems to be ignored by my Doctors. I have also presented a copy of the British Journal of Haematology to my Doctor however he is refusing to follow these guidelines. To take the edge of my symptoms I have been taking Methyl cobalamin sublingual and Methyl Folate daily.
Anyway, the reason for my post is that I now have my 23andme results and I have run the raw data through genetic genie which show mutations at critical areas in the Methylation process. These are...
MTHFR C677T RS1801133 AG (+/-)
MTHFR A1298C RS1801131 GT (+/-)
I believe that makes me compound Heterozygous and I also have mutations on the following required for effective methylation.
MTR A2756G RS1805087 AG (+/-)
MTRR A66G RS1801394 AG (+/-)
MTRR A664A RS1802059 AG (+/-)
BHMT-02 RS567754 CT (+/-)
BHMT-08 RS651852 TT (+/+)
My TCN1 and TCN2 results are as follows, however I'm not sure if these are "mutations" as they are out with the report given by Genetic Genie.
TCN2
RS16988828 AG, RS9621047 AG, RS9606756 AA, RS740234 AA, i5004509 TT, RS1801198 CG, RS5749135 CT, RS2283873 GG, RS9621049 CG, RS4820886 TT, RS2301955 CT, RS10418 CT
TCN1
RS117699377 CC, i6042918 II, RS557564 CC, RS141411985 GG, RS61903593 AG, RS526934 AG, i6042919
Obviously a lot of information to take in but I guess the questions I have are....
1/ Do these Mutations point to a problem in my Methylation process and what does this mean for me ?
2/ If so, how do I prove this to my Doctor - Are there any medical Journals / reports that I can present to him to explain this and that I'm not mad ?
3/ Are there any mutations / issues with my TCN1 and TCN2 results and if so how do I prove this ?
4/ Are there any Doctors (preferably in the UK) that could help me prepare a report to my GP with my Genetic results ?
5/ Any other "basic" information / videos to help a "newbie" get up to speed on the BASICS would be appreciated.
Thanks in advance of any help provided and apologies if any of my questions / points are deemed to be basic.
A.