Haematomochrosis: 'Normal' or High Levels of Serum B12 but all the Symptoms of B12 Deficiency: This Might be Why.

[Foggyme]

Hi All. Just been thinking about another post which asked if having a gene variant for haematomochrosis could skew serum B12 results and 'mask' a potential vitamin B12 deficency. Couldn't answer that one (if anybody knows?) but did come across some information that might interest anybody who has haematomochrosis, iron overload disorder, or liver disease.

...it appears that people who have developed iron overload disorders were found to have 'within population norm B12 levels' but deficiencies in folate, increased homocysteine (presumably due to the low folate), and deficiencies in vitamins A, D, E, B6, and thiamine...what the following paper refers to as 'broad spectrum nutritional deficiencies in water and fat soluable nutrients...' of which the precise mechanisms were unknown.

Here's the paper (it's very dense and difficult to read!):

ncbi.nlm.nih.gov/pmc/articl...

So... If having these conditions can potentially result in folate deficency...and you need folate to process B12...then having the folate deficency can result in being unable to process B12...so you'd get a 'hidden' or 'masked' B12 deficency by default...I think 😖. Even in the presence of 'normal' or extremely high serum B12 levels.

And if this thinking is extended further...then the potentially high levels of serum B12 found in liver disease (in the absence of supplementation with B12) also factors in...since whatever the serum B12 level is, a 'masked' B12 deficiency could be present...because there's simply to little folate to process the B12. Again, I think.

This thinking is only based on the findings of one research paper...but it might be worth thinking about if you have any of these conditions, your levels of B12 are 'normal' or high and you have the symptoms of B12 deficency...

But there again...your GP will have probably checked your folate levels and treated accordingly 😉😀

👍

[Gambit62 Administrator]

yes, came to pretty much the same conclusion when I looked at it - probably the same study

[Holnee]

I discussed this with my doctor recently. One needs 2 mutations to develop hemochromatosis, as it is an autosomal recessive genetic condition. I have 2 hemochromatosis mutations, so genetically speaking, I have hemochromatosis. But, there are several different mutations that can occur in this gene, resulting in multiple potential gene combinations and variations in severity and symptoms. Mine are rare mutations and their effects are not well known yet. Additionally, women with hemochromatosis often don't develop iron overload until after menopause, because we lose blood and iron monthly. If I understand correctly, the effects of hemochromatosis on other blood indices would only be expected if the person already has elevated iron levels. If iron levels are still normal, then I believe there should be no effect of hemochromatosis on the levels of other vitamins. I actually am planning to request a referral to a hematologist to discuss this further, because I want to be sure.

[Foggyme Administrator in reply to Holnee]

Wow Holnee...thanks for the brilliant information.

Going to paste a link to your answer in the post where another was asking about gene mutations and haematomochrosi

Thanks again and good luck with the haematologist.

😄