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Pernicious Anaemia Society
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Is PA heretedary ?

Is PA heretedary ?

I have just seen my fathers death certificate and he had PA,

I have suspected I have b12 deficiency for a while but b12 is in range, 1st one was 287 the next about 5, my folate is on the low side,

In my medical records which most are missing, I see in the past I had oval macrocytis and others just macrocytitis

My MCV MCH are always at the very top of the range but in range,

I have a degenerative spine, and have pins and needles in hands, and numbness on my legs I also have no lower reflex.

, when I sit on the toilet I get pins and needles in my legs and bottom,

Is there any genetic testing snp numbers know to point that you may have PA gene fault as I have a 23andme genetic test last year, so could look up in my raw data.

I am tired most of the time, my eyes go blurry at times and other times they are ok.

I get dizzy on standing at times and more recently I have gone of my food ,

I had graves when I was younger so have had auto immune ,

I’m now hypothyroid but not auto immune it’s where Drs killed my thyroid off, so on medication for that..

I sometimes wake up feeling like I have been hit by a train sort of a big hang over feeling but I do not drink..

I am also very moody and irritable it’s horrible to be this way

I understand thyroid and PA symptoms maybe similar

could anyone help me on what and if I can ask Gp to testas they haven’t as yet taken me seriously and wondering if they should do further investigations now I have the evidence my father had OA,

Thank you for taking time to read this and any answers will be appreciated 🙂

36 Replies

Hi Pascha1 P.A. may be "inherited" but it is not mandatory.

Ask your doctor to test you for "Intrinsic Factor Antibodies" (IFA) and your serum B12 and Folate levels to see if you are deficient.

Sadly the IFA test is unreliable in that it gives false negatives in people with PA half the time. So a negative result doesn't mean that you don't have PA. However, a positive result is a sure-fire, 95% certain indicator of PA.

I am not a medically trained person but I've had Pernicious Anaemia (one of many causes of B12 deficiency) for more than 46 years.

I wish you well.


Thank you

would it be worth me paying for an MMA with all the other B12 tests as my Drs have said all my symptoms are endocrine , I suppose both symptoms are similar ,problem is that place in st Thomas hospital do not do the postal IFA test


Sorry, but I'm not qualified to comment other than that the new BCSH guidelines say: “Plasma tHcy and/or plasma MMA, depending on availability, may be considered as supplementary tests to determine biochemical cobamalin deficiency in the presence of clinical suspicion of deficiency but an indeterminate serum cobamalin level”.

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Thank you


It may be worth paying for the Viapath 'My B12' test. It does serum B12, Active B12 and MMA. Get a 10% discount here - healthunlocked.com/pasoc/po...

There are no genetic tests that can tell you that you have PA.

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Hello. Sorry to hijack this post but not quite sure how to ask this otherwise. I hadn’t heard about the Viapath MyB12 test before and think it could be helpful. I have injections every two months and the last was a week ago. Would you know if there is an optimum time if I were to take the test? Thanks.


Why do you want to take the test?

If you’ve been having injections it’s very likely that both serum B12 and active B12 will be high and that MMA will be low.

If you want to show that you would be deficient without injections then you’d need to wait several months.

If you suspect you may have a functional deficiency (high B12 in the blood, but it’s not getting into the cells) then you want to take it while you’re having the injections, looking for high MMA.


Thanks for reply. Am having injections but not sure all is as it should be so maybe it is iron, folate etc I should be checking instead.


That’s the one I was going to order so thank you for that 🙂


fbirder that discount code doesn’t work have you a more recent one please X


Sorry, you’ll need to contact the PAS.


You poor soul.

Thank goodness you have found this site - welcome to our group!

You sound like you definitely have B12 deficiency and need significant treatment ASAP.

Please see replies from Sleepybunny by looking up her profile by double clicking on her name and looking under the heading "replies" for seeing what you are owed in help and how to get it.

It sounds like you need to change Drs.

How some people can go untreated, un cared for and be allowed to suffer so much is unbelievable.

Replies from Foggyme and Polaris may help you to start with too as they are very kind and helpful, with a huge wealth of knowledge.

There are lots of other brilliant contributors here and you will see their replies alongside the others.

I expect regular (at least every other day) injections and supporting supplements will help you significantly and we can help you source those.

Please act promptly as you need good treatment to prevent you sustaining more damage from the deficiency.

Looking forward to hearing from you again


Thank you I will take a look really appreciate the reply thank you xx

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I forgot to add that my Dad was diagnosed with B12d and several other members of my family have other vitamin and mineral deficiency problems.

At least anecdotally it is known to be heredity, even if there are no scientific papers published on the subject (there may be, I just don't know about them).

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I left a letter at my surgery telling them my father had PA and would they now please do further testing, I’m waiting for a call back, probably will not be till tonight or next week now. , I have the nurse booked even if I get private bloods but hopefully they will do NHS , they probably won’t do all the ones I asked for but even if they do the IFA that will be better than nothing .

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Good plan - well done!


It’s sound like you are going through a really tough time. I completely agree with Denise’s comment. You need treatment and things should start to improve hopefully. Just be aware that it can take time. I also used to go numb in legs when sitting on toilet. I’m now on every second day injections orescribed by gp and my pins and needles are so much better! I have Pa in the family on my mums side. My mum did not have a diagnosis but I’m certain that she had it from her medical history. Take care and push for treatment ASAP!


Thank you my legs go numb and pins and needles sitting on the toilet as well , I’m going to order that test and get that done and if I can’t get Gp to do B12 then will get myself...

I would change GP but she is good really with my thyroid and believe me they are a rare find , so think I will have to stay with this one as my thyroid really wasn’t treated well for over 14 yrs till I came across her so she’s a rare find on thyroid .. she just won’t shift on the b12 though , I suppose you can’t expect one who deals with all problems , I think I will order the b12 anyway as even if the Gp does treat it, it probably won’t be enough, but would like them to do the 1st injection incase I’m allergic to it . Thank you x

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Some B12 links that may be of use.

Link about "What to do next" if B12 deficiency suspected


B12 Deficiency Symptoms



b12d.org/admin/healthcheck/... (may need to be B12d.org member to use this)

Risk Factors for PA and B12 Deficiency




Coeliac Disease

NICE guidelines Coeliac disease recommends that people with unexplained b12, folate or iron deficiencies should be tested for Coeliac disease.


Guidelines recommend two tests ....

1) tTG IgA

2) Total IgA

If you were tested, did you have both tests above?

Total IgA test checks which patients have IgA deficiency (an immunoglobulin) as these patients need different tests for Coeliac disease. Total IgA is not always done in UK although recommended.

Coeliac Blood Tests


H pylori infection


Any surgery involving use of nitrous oxide?


UK B12 documents

If you're in UK, I suggest reading all of UK documents below.

BSH Cobalamin and Folate Guidelines


Flowchart from BSH Cobalamin and Folate Guidelines

This flowchart outlines when PA and Antibody Negative PA can be diagnosed in UK.


Have you ever had an Intrinsic Factor Antibody test? This is recommended in UK as a diagnostic test for PA but is not always reliable...it is possible to test negative on IFA test and still have PA. Sadly some UK GPs may be unaware of the possibility of Antibody Negative PA. See BSH Cobalamin and Folate Guidelines and Martyn Hooper's book "What You Need to Know About Pernicious Anaemia and B12 Deficiency" for more info about Antibody Negative PA.

BMJ B12 article


BMJ article emphasises need to treat people who are symptomatic for B12 deficiency even if B12 level is within range.





B12 books I found useful

"What You Need to Know About Pernicious Anaemia and B12 Deficiency" by Martyn Hooper

Martyn Hooper is the chair of PAS (Pernicious Anaemia Society). Book is up to date with UK b12 guidelines.

"Living with Pernicious Anaemia and Vitamin B12 Deficiency" by Martyn Hooper

Has several case studies.

"Could it Be B12?: An Epidemic of Misdiagnoses" by Sally Pacholok and JJ. Stuart (USA authors)

Very comprehensive with lots of case studies.

PAS (Pernicious Anaemia Society)

Based in Wales, UK. Offers support and info about PA.

As you suspect you have PA, probably worth joining PAS. Costs £20 for a year's basic membership. Not every PAS member has a confirmed diagnosis of PA.


PAS can sometimes intervene directly on behalf of PAS members and at the very least can pass on useful info.


PAS tel no +44 (0)1656 769717 answerphone

PAS support groups in UK

There may be a PAS support group close to you, they are only open to PAS members.


B12 Deficiency Info website


UK B12 Blogs

May be stories on these blogs that are relevant to you.

Martyn Hooper's blog about PA


B12 Deficiency Info blog


Blood tests


"My MCV MCH are always at the very top of the range but in range"

Do you know your ferritin ( a stored from of iron) levels?

Low b12/low folate can lead to macrocytosis (enlarged red blood cells).

Low iron can lead to microcytosis (small red blood cells).

A patients with both low iron and low B12 (or low folate) may appear to have MCV within normal range because effects of low iron on RBC can mask effects of low B12.

Have you looked at results for RDW (RBC Distribution Width) on Full Blood Count results.

An increase in RDW means greater variation in RBC size so may indicate possibility of microcyotis and macrocytosis from iron, B12 or folate deficiencies.



Full Blood Count and Blood Film


Have you ever had a blood smear also known as blood film? this may show both microcytic and macrocytic cells in someone who has both iron and b12/folate deficiencies.


Folate Deficiency


Iron Studies


Unhappy with Treatment (UK info)?

Letters to GPs about B12 deficiency


Point 5 in above link is about being symptomatic with an in range B12 result.

Point 1 is about being under treated for B12 deficiency with neurological symptoms.

CAB NHS Complaints


HDA patient care trust

UK charity that offers free second opinions on medical diagnoses and medical treatment. Uses a network of specialist doctors in UK.


Neurological Consequences of B12 Deficiency

PAS news item


PAS article about SACD, sub acute combined degeneration of the spinal cord, available to PAS members only.

pernicious-anaemia-society.... See Page 2 of articles.

I hope your GP is aware that untreated or under treated B12 deficiency can lead to risk of permanent neuro damage including SACD.

Blog post from Martyn Hooper's blog, mentions SACD


"they haven’t as yet taken me seriously"

Learning about B12 deficiency/PA is only a very small part of their training so GP may need some help.

Help for GPs

1) PAS website has section for health professionals which your GP may find helpful.


GPs and other health professionals can join PAS for free as associate members.

2) I believe PAS has access to a GP who understands PA so it's possible your GP may be able to speak to that GP.

3) Leaflet "An Update for Medical Professionals: Diagnosis and Treatment" available in PAS library section. Need to be a PAS member to access this. Some forum members have passed this on to their GPs.

pernicious-anaemia-society.... See Page 1 of articles.

4) I gave my GPs a copy of "What You Need to Know About Pernicious Anaemia and B12 Deficiency" by Martyn Hooper for the practice library.

I think your best bet for help is to contact PAS. You would need to be a member.

Blog post about how PAS has supported people seeking a PA diagnosis.


There is more B12 info in pinned posts on this forum. There's a useful summary of mainly UK B12 documents in third pinned post.

Stichting Tekort (Dutch B12 website with English language articles)


Best piece of advice I ever got was to always get copies of all my blood test results. Some people on forum get a complete set of medical records. It can be very interesting to see what GPs have written in the past.

Have you got copies of test results/medical records?

I am not medically trained.

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Wow Thank you so much , so much to get through, I’m having a bad few days at moment so will check everything out as soon as I have the energy to do so, , migraines last few days so can’t concentrate on too much at moment,m

I joined PAS a while back as I’ve suspected it for a while .

I have have in the past had oval macrocytic and macrocytic put on blood results when MCV and MCH where over range no further tests were ever done ,but was never told about them,

I only know from getting Gps medical records , but many blood results are missing but found a few with macrotyts and oval macrocytic ones but as said they are now top of range as to when they were over range .

my ferritin was 49 and full iron levels where good all in range , if I can find them I will post them as someone suggested to eat liver weekly to get them better

My Nan had coeliac, ( things don’t get any better here )they only ever tested one anti body that was negative, I don’t seem to have a gluten problem but do severely bloat out after Chinese uncomfortably so , I also have dish and constipation , I do avoid bread if I can.

Not heard of a blood smear so doubt that has been done.

Thanking you again it much appreciated although very daunting .

I think this is going to be hard work, I have only just got on top of thyroid issues through researching everything myself and looks like I’m back on the research trail again, I have lost any sort of faith I had in the NHS tbh..

I did manage to watch the film someone suggested I watch earlier and it’s the only film that’s bought tears to my eyes for a long time

I will have to check the PAS website out a bit more when I have a really good day as I said I became a member a while back but forgot about it ..

Looks like I may get on top of this but it’s not going to be an easy quick fix , maybe I should just get on B12 and self medicate, just would like 1st one done by nhs as I do have allergic reactions to many things

Thank you xx



I have just posted photo of my iron blood count, not sure how to work that out tbh . My ferritin was 49 and folate is on that one it’s 7 so still well with in range, I have a homogenous both parents for homochromatosis but don’t think it has affected me as always used to have iron deficiency before menopause as had endometriosis , but better after all that stopped

Ican't find other bloods at moment but when I do I will post them . Thanking you very much for your reply I have answered below xx



Haemochromatosis Info


If you click on link about Iron Studies in my post above then look at section on what test result means, it lists what blood results could be indicative of haemochromatosis.

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Hi, thank you for this, did you see the iron blood results I posted on my post above?

I had done after I discovered I had the HFE gene, I believe it is ok, I am with genetics nhs counciling on a few genes at the moment ,

I appear to have inherited a lot what my father had and what my mother carried, although I have a double gene I have always been on the low side of iron, and have iron deficiency when I had graves ,but I don’t think I have iron over load not yet anyway ! Probably was low on iron most of my life tbh always pale looking , I have been over menopause about 15 yrs now so I am told if it was going to happen it would of about 5 years ago,

thank you

My heamacrit is 0.391 range 0.37 - 0.461

RBC 4.2 range 3.90 - 5.1

MCH 32.3. Range 28 - 33

MCV. 95.4. Range 80- 105. That range has gone higher than it used to be and my MCv was always really over range till this one.. are the nhs widening ranges or something top range used to be 95 my result was always 100 - 105

These are the best bloods I’ve had tbh

Thank you



The iron related results you posted appeared to be normal range.

Found this link for Haemachromatosis UK charity.


Lots of useful info if you click on "Haemachromatosis" tab including genetic info, and testing and diagnosis.

MCV/MCH results

Should be some useful info if you click on links for Full Blood Count and Blood Film in my post above.

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The Gp has agreed to test me further on PA She asked what I wanted tested , so I gave a list , I doubt she will do them all but knowing my father had PA she has listened this time, I’m sure it would be cheaper to just give B12 injections rather than run all these tests that may not even show, I have been saying ages before I knew my father had it, I had loads of these symptoms of b12 deficiency even showing her tongue was a bit swollen and ulcers in my mouth, she was convinced it was endocrine,, so have bloods Tuesday so will come back with the results then, a trial of B12 should be given at least I feel,, but GPs don’t seem that convinced on B12 injections for some reason.... . So should get the bloods back wed or Thursday , thank you for all your help everyone 🙂


"has agreed to test me further on PA "

What tests is she giving you?

Tests such as MMA. Active B12, Homocysteine may be affected if you have already had B12 injections or have supplemented B12 recently.

Hopefully they will at least do IFA (Intrinsic Factor Antibody test) for PA. Some countries also do parietal cell antibody test for PA...it is not recommended as a diagnostic test for PA in UK.

IFA test may give a false positive result if blood taken close to b12 injection or B12 supplements.

Does your GP know that it is possible to have Antibody Negative PA?

See BSH Cobalamin and Folate Guidelines for more info on blood tests.

Is she also going to do further tests for Coeliac? See NICE guidelines Coeliac link in one of my posts above. UK guideline suggest people with symptoms consistent with Coeliac disease should see a gastro-enterologist if blood results are negative for Coeliac.

Coeliac UK have a helpline .

Helpline 0333 332 2033

"have bloods Tuesday so will come back with the results then,"

Probably worth talking to PAS before Tues.

Might be worth giving her a copy of diagnostic flowchart from BSH Cobalamin and Folate Guidelines (link in my post above) and maybe a copy of PAS article "An Update for Medical Professionals: Diagnosis and Treatment".

pernicious-anaemia-society.... See Page 1 of articles.

"I have been saying ages before I knew my father had it"

My personal view is that it is more effective to put queries about diagnosis/treatment into a brief, polite letter addressed to GP.

This is because I feel letters are harder to ignore as they are supposed to be filed with a patient's medical records. I put symptoms, family history, extracts from Uk B12 documents, test results into letters.

May also be worth pointing out in writing the possible consequences of not treating or under treating B12 deficiency eg risk of permanent neurological damage. See "Neurological Consequences of B12 Deficiency" links in my post above.

Some GPs find it hard to cope with assertive patients so be prepared for possibility of GP/patient relationship deteriorating.

Have you considered contacting HDA patient care trust?

HDA patient care trust tel. no. 0207 935 8366


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Thanking you again I will check all links out,, I

the last 3 times I have asked about B12 I’ve done so in writing 1st two I wrote I got an an answer of no they were not going to test me further

,The 3rd letter I sent stating my father had PA death certificate and I got a call later that day asking if I had booked the nurse for bloods, which I had as was about to do private bloods but thought see if NHS would do them before I paid out , I stated on the letter if I was positive I would be claiming back what I paid out privately for bloods as they should be testing it , not me paying.

She knew it was hereditary

I guess that worked, the gp when she called asked what I would like tested, I said active B12 folate, IFA, homocysteine, MMA, FTC blood Smear and parietal . All to which I was having problems saying it how They were pronounced for some reason, i , she said drop her letter off with names all I wanted tested,, that was Wednesday I popped letter in,

I have rang surgery quite a few times to ask what she is actually going to test and the receptionist sound like they are getting fed up with me,, I’m starting to feel embarrassed as feel like I’m going on , it is very frustrating

so will jus5t go in to have bloods done Tuesday as feel a right pest at the moment keep ringing and see then what sh3 has told the nurse to test and wait for results ,

and if she hasn’t done them all I will get them privately,

I also in the letter on wha5 bloods to do I said that their is a page for medical professions on Pernicious anaemia society and gave her the web address and was free for her to join, but whether she reads it or not is to be seen

She had a better attitude about further testing than she had before now knowing father had PA so fingers crossed she has looked or contacted PAS.

To be fair on this GP she was the only dr in years that noticed a lot of my problems were thyroid related , where as many years I’ve been treated for the wrong things, she sent me to an endocrinologist who did help to certain point but then wasn’t listening any further but he was not listening to symptoms and she had copied him in all symptoms and he didn’t even read them so she was annoyed as she said it’s endocrine she told me I needed a second opinion She told me to go and research an Endo who will try alternative treatment as her hands are tied to prescribe what I may need but if I can find an Endo who prescribes alternative she will be able to monitor and prescribe it after ,

so she’s good with Thyroid,, and has been working with me on things on that and that’s the 1st who has since being diagnosed in 2092 and left suffering in many ways with most drs ignorance in thyroid

, so hope fully she’s researched up on PA, and will be good with anything else with me

I will look at all links and will pop them in surgery and she can read it all,

and if she hasn’t done the right bloods then she will have to rebook me on to do again .

That’s a good idea on copy the bloods I had done All those othe4 times where I had oval macrocytis so she doesn’t have to search notes for them

This is all hard work when you don’t feel great ,

Thank you for helping Me on everything I do really appreciate it,,

I would of thought it would be cheaper just to give me b12 injections than all this expensive testing but because of guidelines and rules I suppose they have to abide by them or they get in trouble..

Just feeling worn out with it all begging for so long good job I found my dads death certificate

Thank you kindly


"I’m starting to feel embarrassed as feel like I’m going on"

Please don't feel embarassed...it's your health that's at risk.

I gave up worrying about GPs reactions to my constant badgering as I knew that I was headed for dementia and spinal damage if I didn't get treatment.

If you don't get adequate treatment then there is a risk of permanent neurological damage eg SACD, sub acute combined degeneration of the spinal cord. There are forum members on here who have SACD. Your GP should know about risk of SACD and if she doesn't know, you could give her the SACD leaflet from PAS library section.

pernicious-anaemia-society.... See Page 2 of leaflets.

"so hope fully she’s researched up on PA"

I gave a copy of Martyn Hooper's book ""What You Need to Know About Pernicious Anaemia and B12 Deficiency" to GP surgery in the hope that GPs would refer to it.

I am still improving years after starting B12 treatment although I suspect I have mild permanent nerve damage. I had to self treat for a long period as was unable to get NHS treatment for years.

"I would of thought it would be cheaper just to give me b12 injections"

I agree....although I'd add that it is useful to have a confirmed diagnosis. If you get a diagnosis of PA, I strongly recommend that you get written proof of the diagnosis asap eg copy of medical records/test result/consultant's letter etc.

There are stories on this forum of people whose B12 treatment has been stopped and when they argued that they had a PA diagnosis, the GP surgery denied this. In some cases PA diagnosis was not recorded in medical notes.

One way of ensuring PA diagnosis is in medical notes is to write a letter to GP thanking them for finding out what was wrong and giving date of PA diagnosis. Letter should get filed with medical records.

Keep copies of any letters in case they need to be referred to in future. Things can go missing from records.....

Good luck and hope you will update the forum with your news in future.

If you do post an update it is probably best to start a new thread as responses to old threads sometimes don't get noticed. You could include a link in new thread to this thread.

Good luck.

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Thank you, you have been a great help,

I went for bloods yesterday morning to which the dr had not authorised any of the bloods and the nurse bought up on the screen the letter, thankfully I had started the letter with

Thank you for the call I had last night on blood to get PA tested and here is the list of bloods needed that you asked me to find out for you the list.

I also told her about info for health professionals on PAS leaving web address... kinD regards etc

I think I did mention that this GP only does 1 or two days at my surgery but does a few more days at the sister surgery, so wether she hadn’t seen the letter, to which I know she was at surgery day I dropped off , I can only think that the girl at reception just put it in my notes and never gave that gp the letter,, the nurse said that particular gp is very good Everything she does and said she can’t of seen the letter, I will ask when I go in for the results as I had asked them to give it to.. anyway the nurse did most of the bloods MMA, homocysteine , FTC, iFA, active B12 and another I hadn’t heard of a CAB IR CBA? She said it had something to do with PA but I hadn’t seen it, and she said she put a few of the regular bloods I normally have done liver and other things , she said she would have to get a dr to authorise them, so god knows what will be tested I will call later today , but not sure how long some would take to get back,, I will put results on new post re this heading .. thanks again



Not sure what this is. Is she going to do a full blood count (FBC) test?

Full Blood Count and Blood Film



Is she going to do a gastric parietal cell antibody test (GPCA or PCA)?

This is used as a diagnostic test for PA in some countries but not normally in UK.

See BSH Cobalamin guidelines link in one of my posts above for more info about testing for PA and B12 deficiency.

Have you supplemented B12 recently?

As I said in above post, MMA, Homocysteine, Active B12, serum B12 test results may be affected if you have recently had B12.

Link about IFA test


See section on what test result means in above link.

May be worth taking summary points from BSH Cobalamin guidelines with you and maybe PAS leaflet "An Update for Medical Professionals: Diagnosis and Treatment"

pernicious-anaemia-society.... See Page 1 of articles.

to next appt. I also used to have a copy of Martyn Hooper's book in my bag.

I've also taken copy of BSH flowchart with me as this outlines when PA and Antibody Negative PA can be diagnosed in UK.

Worth reading summary of mainly UK B12 documents in third pinned post.

Sadly patients who suspect b12 deficiency really have to well-prepared as understanding of b12 deficiency is sometimes lacking amongst GPs/specialists.

Blog post about how PAS can support those seeking a PA diagnosis.



Which HFE mutation do you have?

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I will try find them tomorrow and post then , I’m about to post the result of MRI test when I lost use of left leg and now have no reflexes at all on both knees feet. Maybe it is or isn’t PA , it’s all a bit too much for me , I was in hospital a week not one blood test done , but I couldn’t walk on leg it was like jelly.


I’m just looking at genetics now and is HFE rs1800562 that’s one from each parent , if I find any more I will up date you just looking at the double faults at moment do yo know anything about that gene .? And do you have any others I can check on raw data I bit new to all this and not finding it easy


It s says 1% have the A mutation seems I have a double AA , my father also had a rare disease seems he had a few but he had porphyria , king Henry the 8th had the same diseasea , if he went out in the sun he blistered and his urine was purple not that I ever saw that bit... He had the rarest form of it, hopefully I won’t get that as well :(


Link to British Porphyria Association


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I know I was tested for porphyria when I was around 25, I am at nhs genetic counciling for that soon waiting for appointment to come through , thank you but I will check wesite out 🙂


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