Hi. I'm 53 and I've had various health problems as long as I remember, mostly to do with the reproductive cycle, pms, tiredness, foggy thinking. I've always wondered what was wrong with me, but the doctors I have seen have never really looked any further than a general blood test.
About three months ago I had a 23andme dna analysis. I've always been interested in genes and I was hoping curious to know my 'genetic fate' When my genome came back I ran it through a programme that highlighted mutation in genes. When I read the report, most of my mutations were to do with not being able to process B12.
By coincidence, I had been to the doctors becasue I was feeling awful and couldn't lose weight no matter how I tried. Another blood test, told I was anemic. I looked up possible causes of anemia, becasue I have a very good healthy diet, and saw it could be B12 deficiency. The doctor had prescribed folate tablets but I can't take them as they give me stomach problems. So I bought a high dose B complex vitamin and Spatone. Then my mother told me that my grandmother had been diagnosed with pernicious anemia and had injections for most of her life.
My life has completely changed. I have energy, I have lost weightand my reproductive cycle has gone into menopause (as my blood tests suggest I should be). My migraines are treatable and my mood is more stable. I actually can't believe the difference.
I haven't checked this out with my GP because, to be honest, I'm not sure that he will understand the genetic bit. Also, any blood test he suggest (because this seems to be his answer to everything) will be normal, won't they, as I am already supplementing? Do I need a diagnosis? Does this sound the right treatment, Spatone and B complex?
Thank you for any comments, I am so excited to feel something like normal for the first time in my life! But a little worried that I'm taking too much/too little.
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Karris
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I'm sure you know deep down that it is best if you stop self medicating and then go back to GP with any symptoms you have, mention PA runs in the family and have specific PA blood tests, with are serum B12, antibodies and idealy active B12 and if needed MMA/ homocysteine.
To understand read the new guidance, print it and give copy to GP if needed, see:
You should not be given or taking folic acid tablets if your B12 is to low.
What kind off anaemia was your GP talking about re: "Another blood test, told I was anemic"?
I hope this helps and you will see that getting a firm diagnosis now and the right treatment possibly for life is more important than temporarily feeling OK with multy vitamins,
You can't overdose on B12 but some other B vitamins can cause problems so make sure that you don't exceed upper limits. You do need folate (B9) to absorb B12 but best if you can get that from your diet.
If you go back to the doctor then you should mention the relative with PA and they should take notice of that - though can understand your lack of confidence.
Unfortunately you can be symptomatic of B12 deficiency well into the range that most GPs regard as 'normal'. It may be worth getting hold of the test that was done when you were diagnosed as 'anemic' as its quite common to check folate and B12 together as they are closely related and if you were identified as being folate deficient ....
Any B12 result under 450-500 is grey range though normal tends to go down to around 150-180
I would check with Gp surgery to see if they have a B12 result for you since they must have done folate. The thing to watch with high dose B complex is pyridoxine which can actually cause neurological symptoms e.g. pins and needles. It is good you are feeling better though. Most B complex tablets don't actually have a awful lot of B12 in them i.e. not mg.
Your genetic profile results are interesting- what programme did you use to run them through? I might consider it myself.
I used 23andme for the initial analysis then ran my raw data through Genetic Genie (free) and MTHFR Support ($20). The MTHFR support allows you to click on individual genes that lookup on SNPedia but Genetic Genie is a Methylation report.
I've only really skimmed the surface so far, but it's really interesting.
Hi. I've held off posting until I got my full results back. So I had a blood test and went back to the doctors for my results. She told me that 'all was normal'. I questioned this in regards to B12 and my (very low) iron levels and produced my genetic results and told her about my grandmothers PA. She said that I did not have PA.
She told me that my folate levels and B12 were not low enough and avoided disclosing what they actually were (this is pre taking supplements). She did suggest that I had a blood sugar test (even though my opriginal test was normal), which I went to the nurse for this morning.
So the nurse reviewed my original full blood results from March and showed me the screen. Everything was spot on, cholesterol, thyroid, blood count. But my iron was very low and my B12 was 284. I questioned this and again, she said that it was normal. I asked her how she knew and she said that if it was abnormal the screen would show it in red. I made a note of the normal range on the screen and it was 120 - 600.
I had a frank talk with her about my worries and cited the report that someone on here kindly gave me and showed her the genetic report. She did understand, but said that even given my genetic results and family history of PA, I would not get a diagnosis if my B12 was in the normal range. So it's a catch 22. As I was going she followed me out and told me off the record to get some high level sublingual methylcobalamin (sp?) and that an intrinsic test (?) would be no good for me because of the genetics.
I have had the blood sugar test this morning along with another one to measure my iron levels after taking spatone.
Not sure how to proceed now, there doesn't seem to be much point repeating B12 tests if the baselines are 120 - 600? I've carried on taking the spatone/berrocca/H&B B complex so far. Would it be worth getting the sublingual B12s?
Intrinsic factor is test for PA. That B12 lower range is ridiculously low. What area is that? BCSH guidelines recommend treatment below 200! If your GP isn't listening you could try stopping supplements and getting active B12 checked in a few months or just supplement yourself as many do. You can get 5mg sublingual tabs on amazon. Btw having your genetic results does not rule out PA but IF test is only 50% sensitivity.
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When my genome came back I ran it through a programme that highlighted mutation in genes. When I read the report, most of my mutations were to do with not being able to process B12.
Pernicious Anemia with worsening neuropathy. I'm new here.
New on here ...would appreciate help with my results please 
My P.A. Story
Help needed, I'm new here!
