Martyn Hooper MBE – Chair of the PAS

~ The Chair’s Blog ~

Juvenile Pernicious Anaemia

by | Aug 3, 2009 | 5 comments

childSome of the saddest cases of under-treatment and misdiagnosis among sufferers of Pernicious Anaemia involves children.  There are numerous issues associated with children or young adults who develop the condition.  We know that the usual health service treatement of PA is far from satisfactory because it is based around serum B12 levels and that these levels do not explain what happens at cell level and high serum B12 levels do not mean that all symptoms disappear.  And we know that patients who are still symptomatic after replacement therapy has started can make adjustments to their daily life in order to cope with the condition.  I know of many members who ‘hide’ in the afternoons when their symptoms return.  They stare at their computer screens and hope nobody notices that nothing much is going on.  Or they sit staring at the same piece of paper not quite knowing what to do with it.  Others negotiate with their employers so that they start work earlier and finish earlier in the day.  All kinds of negotiations can be made in order that the sufferer can cope with the condition.  In some cases, the sufferer will have to take early retirement or a change of career in order to manage the disease.

Imagine these problems being faced by children or young adults.  If they are diagnosed and receive the three-monthly injection of Hydroxocobalamin or monthly jab of Cyanocobalamin they are forgotten.  That’s it.  The treatment is handed out and nothing more is done.  Yet if the child remains symptomatic (which is highly likely) no allowances are made for the disfunctioning of the child in the afternoons – or in the worst cases during all of the day.  And because the medical profession will tell the parent that there is no reason why the symptoms should be present because the serum B12 level is within the reference range the teaching profession, and in some cases the parents, will attribute the lethargy, the unenthusiastic response to requests, the lack of concentration and need for isolation as being due to ‘behavioural problems’.  The child is often referred to an educational psychologist and usually labelled as having ‘behavioural problems’ – a label that will haunt the child during his or her education. 

I have been involved in acting as advocate for three cases of Juvenile Pernicious Anaemia.  It’s easy to blame the medical professionals for not listening to the child and parents.  The total reliance on serum B12 to diagnose and monitor the patient is only now being called into question and the vast majority of doctors see no reason why any patient should be still symptomatic after serum B12 levels have been restored to within the reference range.  When I have been involved the parents are able to tell when the child’s symptoms are returning and ask for him or her to receive an injection.  This is refused because if the doctor concerned tests the level of serum B12 and if that level is anywhere within the reference range (even just one point above the lower level) then the child is deemed to be not B12 deficient.  It is only in the rarest of cases that a monitoring test like this is done.  Usually the doctor will remind the parent that the three monthly or monthly injection is perfectly adequate and that the child is obviously “playing on it”.  Whereas an adult is then routinely offered anti-depressents the child is often referred to a behavioural therapist. 

It is a disgrace.  Our youngest member is 18 months old.  His brother, aged 3, is our second youngest member.

Last week I received an email from the Royal College of Paediatricians and Child Health.  It asked if the society would be interested in participating in a Research Programme into the causes and effects of Juvenile Pernicious Anaemia.  I have replied that I would very much like to be involved in this complex area.   Thankfully Pat and Ian have offered to produce a Briefing that I can use to take this forward.  If anyone else would like to get involved please get in contact with me – any offer of help will be a great help.

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  1. Anne Wilson


    I was diagnosed with pernicious anaemia when I was in my mid-twenties. I had been diagnosed with JRA years earlier and would eventually be diagnosed with many auto-immune diseases.

    My son was diagnosed with ADD when he was 8. His teacher’s found that he responded well to concerta but he slept poorly and was often depressed and confused.

    He is now 15 and made a decision, which I supported, to stop taking any ADD medication. We noticed that he often has a mild fever, that his grades have dropped only in math (his other grades are in the high 80s and 90s), and that he is tired all the time. He feels unable to even walk to school. His gums have been bleeding for no reason for years.

    Among other things, the doctor tested his B12 and it’s low (104). Because he is a vegetarian (he eats eggs and dairy) he takes 2500 mcg of sublingual B12 daily and has for years.

    Is it possible that PA has been misdiagnosed as ADD for a long time? Or that is ADD medication covered up his symptoms?

    He will be going to a hospital pediatric clinic as soon as they can fit him in, but rigt now I am feeling pretty confused by this.

    Thanks very much.

    • Martyn

      If you or your son have classic inherited Pernicious Anaemia then receiving replacement therapy injections might be more effective tha the sub-linguals. His continual tiredness even though he is taking sub-linguals is, unfortunately part and parcel of having PA. It is a common misbelief that once B12 is administered to counteract the patient’s inability to absorb B12 from food then the symptoms disappear – in many or most cases they don’t. Nobody is able to explain why the patient’s serum B12 levels are healthy yet he or she still suffers from the symptoms.

  2. Suze

    Very interesting stuff. My grandmother and mother (while i’ve never heard the term Perncious Anaemia being thrown around) have chronic B12 deficiencies and require monthly B12 injections. I’ve had symptoms my whole life, as has my 9yo daughter (she also has had unexplained bleeding of the mouth for no known reason). My 21 month old son has in the last 3-4months developed severe digestion and malabsorption issues and is show chronic symptoms of something. He now holds onto furniture to walk around – he is floppy and beyond exhausted, he is pale with a yellow tinge and very dark circles under his eyes. He was a great sleeper until 3 weeks ago when he had a high temperature and these symptoms developed. He also has been having regular mild fevers. The drs are very concerned this week (it had to get this bad before someone would listen unfortunately) and are continually running more tests and referring us to more specialists. They said he was not anemic. I asked them to run more tests for Ferritin and they said his iron was a bit low and that was all. I’m just wondering if i should i pursue this investigation further elsewhere (i’m guessing somewhere a little away from most mainstream drs)? Thanks for reading!

  3. gen

    After being admitted to hosp with heart palpitations and odd ecg readings, along with feeling very strange I discovered I was low b12 (120). I had jabs, all odd feelings / symptoms disappeared, however within 3 months thy had returned but blood test showed my level was 400, so dr admitted was much lower than expected was still within range so advised no treatment but to test in 3 mths. Next test showed 270, same gp response, despite that i am now shaking, suffering numerous neurological symptoms and can now see that all my strange feelings have returned so must have been linked to depleting b12. I am now awaiting more tests next mth. However i have a 6 yr old, last year he was complaining of tiredness, achey, had constant tummy bugs,loose stools, has only put on 4lbs in 4 yrs. Hosp advised he is just a fussyeater, as he is i cant argue with that, however they are not too concerned as he is getting taller. However since my levels are low I asked that he get tested,results are b12 of 408, as is within the normal range nothing is being done. Advice would be greatly appreciated.

    • Martyn

      Dear Gen
      I cannot give advice here – please go to the Forum of the Pernicious Anaemia Society’s website – the moderators will be able to advise you.


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