Seeking advice for my mother. Is there any link among Hashimoto thyroid, B12 deficiency and mutation of the gene JAK2?

My mother has had Hashimoto for over 15 years now and she also takes pills for to control cholesterol and high blood sugar. In the last 2 years, the blood tests show high white blood cell counts ( ranging form 15.000 - 18.000 ) and high heamatocrit (50 when the high end of the range for women is 45). Her B12 levels are 320. She has very low ferritin and low folate levels.

She had many blood tests and a bone marrow biopsy. They are saying that the abnormalities in the blood tests are due to a mutation of the gene JAK2 and they diagnosed it as a myelodysplastic syndrome. My mother has no other symptoms related to a myelodysplastic syndrome. The haematologist has ruled out the possibility of B12 deficiency but she has prescribed 3 monthly B12 shots. ( it doesn't make sense really but what can I say?). They have also prescribed one aspirin a day in order to avid blood clots.

Has anybody had a similar experience? My understanding is that B12 deficiency may affect the bone marrow and it can manifest itself as leukaemia. I have read about patients whose blood tests & bone marrow got normal after having treatment with B12 injections.

I will share this post to the Thyroid community. Perhaps there is a link with Hashimoto?

11 Replies

  • The US have a site now on genetics which might be a useful place to look.

    As the mutation you refer to is involved in processes that are related to cell reproduction ... and B12 is also involved in those processes there could be a cross-over ... but probably going to be a specific genetic combination ... and although we know quite a bit about individual genes and variations I think it's still early days on interactions.

  • 👍👍🌹thank you

  • Sorry not able to help with the mutation. However I am aware that raised cholesterol can be linked to an under-treated thyroid. Back in the early 70's - before Thyroid Testing - patients with raised cholesterol automatically had their thyroids treated. There is no research to state that women benefit from Statins ..... check out the link below.

    Also Statins further complicate health by blocking VitD synthesis - CoQ10 and Vit K2.

  • Thank you🌷

  • Hi and welcome!

    Not had a a similar experience, sorry, but I thought I'd give a go at trying to explain a bit about b12 deficiency's heamatological symptoms. I'm not a medic though... just someone trying to learn a bit more as I have pernicious anaemia!

    Untreated b12 deficiency (and also folate deficiency) can lead to megaloblastic changes (Abnormally large and immature red blood precursors) in the bone marrow. This is due to the lack of b12 leading to impaired DNA synthesis. These problems within the bone marrow are what can lead some people with b12 and/or folate deficiency to have macrocytic anemia - enlarged, fragile, abnormal looking red blood cells and a decrease in numbers circulating in the blood. B12 deficiency can also lead to all the other types of blood cells being unable to fully mature properly (for the same impared DNA sythesis reasons as the red blood cells) and these immature / unusual blood cells can also be found in the blood sometimes (eg hypersegmented neutrophils).

    See BJH B12 guidelines especially p497 and 499: pernicious-anaemia-society....

    In leukemia some of the body's checking mechanisms to prevent cells being made in an uncontrolled fashion no longer work properly and these abnormal, immature cells can take over the bone marrow and be released into the blood. There are lots of different kinds. B12 serum levels are often raised in some of the kinds of leukemia.

    Leukemia and b12 deficiency are usually able be told apart in blood tests as the patterns of the different kinds and structural / shape differences of cells present are different. Things like blood smears should tell them apart too. Occasionally bone marrow biopsies are needed to give more information to work out what is going on though.

    Once someone with a b12 deficiency is getting b12 injections then the anaemia and bone marrow cell abnormalities will get better. Haematological changes in those with leukemia or things like myelodysplastic syndrome would not alter unless the person also had a b12 deficiency too.

    B12 blood test results of 320 are within the "normal" range though towards the lower end. It is possible that they are treating her with B12 preventatively to stop her levels becoming any lower (as ability to absorb B12 as we age is decreased for example). I guess developing any b12 deficiency related bone marrow / blood cell changes would make keeping an eye on her myelodysplastic syndrome much more difficult. B12 is water soluble so any excess B12 exits the body via the urine so is unlikely to cause her problems.

    Are they doing anything about her low folate levels? Low folate can cause the same haematological abnormalities as vitamin b12 deficiency as they work together. Not sure how low ferritin fits in though. Is she getting treatment for this too?

  • THANK you so much for taking the time to give me all this information 👍🌹

  • Hi VickyB12 I can only reinforce taka's comment about Folate as you mentioned your mother's "low folate levels" This needs to be at a "healthy level" to process the B12 she is having injected

  • Hi Vicky 12, I know it was a while ago when you wrote this. Only saw it as I was searching for someone else who has to take daily aspirin.

    I too have jak2 gene ( very high platlets > 3x what they should be, ) I also had low normal b12 of 275. GP & haematolgist only looked at the numbers and said I was fine, so I self treated myself with high dose sublingual b12 and have made a big, almost 100% recovery. (I had previously been at the stage of thinking of giving up work and not driving due to severe brain fog, dizziness , clumsiness, forgetfulness etc ).

    Haematolgist recommended aspirin , although I am youngish, 50, pretty fit and otherwise very healthy and hadn't had any clotting issues. I had started with b12 well before aspirin and really noticed a huge improvement . After starting the aspirin, I noticed some of my b12 symptoms were slowly returning, eg dizziness, couldn't walk in a straight line again, headaches. On stopping aspirin, all these symptoms have quickly vanished again, within couple of days.

    Not sure if your mum has noticed anything similar.? Just interesting to know there is someone else with similar issue.

  • Hi DebraNL,

    Always glad to find out more information... well, my mum is being monitored by a haematologist at the moment and she has advised her to take an aspirin daily and she has 3 monthly B12 injections and folic acid twice a week. The haematologist said that because of the JAK2gene cannot prescribe more injections. She has had 2 injections so far and her blood results were better and she also feels more alert & switched on. She believes that the aspirin is essential and she hasn't tried not to take it, so I don't know whether it would be best if she didn't take it. Re your B12 symptoms, I know exactly what you mean.... I really can't understand why doctors do not acknowledge that one can have serious symptoms even if the B12 is between the grey area 190- 350???? You know, last week one of our neighbours who had B12 def symptoms ( brain fogg, dizzy and left hand numbness) was told by the GP that they are due to her vision problems ( hand being numb because of her eye sight???!!!!) and that her B12 was normal. The GP never gave her the B12 result... Let's see if her problems get any better now that she bought a new pair of glasses! I have to say that B12 def also causes vision problems!!!!

    Please keep me posted if you find out something else.... Really interested because I haven't been tested and there are good chances that I have the JAK2 gene too!

    Have a nice day! x

  • Hi VickyB12, I agree with the visual problems. for the last 10+years I had recurrent loss of central field of vision. Eye tests were all normal. This would typically happen 1x month for 20mins, especially when tired/stressed. Since taking B12 this has not happened at all. For me I know when my B12 is dipping, as my eyes feel heavy, like its an effort to look up. Sounds odd I know. But my mum (who was also low B12 @245) and my daughter (Active B12 @ 40), have also noticed this odd sensation with their eyes, like you can open them fully again when you have enough B12.

    "The haematologist said that because of the JAK2gene cannot prescribe more injections. " -ask them for the scientific evidence for this. I am sure there isn't any. I've never found anything and I have searched a lot.

    My haematologist never said anything about me taking B12 even though I told her I take high daily doses. Be interesting what my next one says - I googled him and he is classed as an "experimental haematologist."

    I always do my own research and make my own mind up. I'm always very sceptical of what doctors say.

    With my mums GP surgery, they have online access. After she signed up for this, she was able to access all her medical records and test results and print them off her self. Maybe you neighbour can do that?

  • I've just had a look and I'm heterozygous for the V617>F mutation in this gene.

    Then again, so are 47% of the population. So I'm not going to worry about it.

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