hemochromatosis carrier, masks b12 test results?

[jde2004ss]

Someone recently wrote in a post that your b12 test results could be inaccurate if you're a hemochromatosis carrier (as I am)...that somehow it masks the results. I didn't find anything on this in a google search. Does anyone know more about this? Thanks.

[Gambit62 Administrator]

sorry - don't remember anything on this forum.

you might want to look at this site and see if you can find any interactions between genetic variants causing hemochromatosis and B12 absorption.

Iron deficiency tends to move size etc of red blood cells in the opposite direction to the anaemias caused by B12 and folate deficiency (microcytosis v macrocytosis) - but I'm not sure how hemochromatosis would affect the size of red blood cells.

There are various tests the results of which can point to a B12 deficiency and may be it is a reference to the unfortunate focus on macrocytosis as an indicator of B12 and folate deficiencies.

[taka Administrator]

Hi! I have to say I know next to nothing about Hemochromatosis so this is all very general! I'm not sure how someone who is a carrier for this would be affected, sorry. Could they have been talking about people with haemochromatosis itself and not carriers?

B12 within the body is recycled via the liver so if someone has liver problems (which I believe is unfortunately much more common in people with haemochromatosis) this could impact the levels of B12 in the body possibly leading to high b12 serum levels due to disease. There are a few research papers linking high levels of B12 and liver diseases.

ncbi.nlm.nih.gov/pubmed/249...

ncbi.nlm.nih.gov/pubmed/264... (not sure you'll be able to read this or not)

Also there are occasional mentions of liver diseases and B12 deficiency too just to confuse things!

b12deficiency.info/what-are...

[Foggyme Administrator]

Hi jde2004ss. Just to complicate the matter even further...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, 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...

Not sure what this means in relation to your question...but just thought it was interesting 😀.

Have you seen this site: irondisorders.org Lots of information here about haematomochrosis and also about B12 (search for B12 and it throws up lots of references). Sorry, don't have time to look further but you may find information that helps...though not so sure it will cover genetic variation/issues.

👍

P.s. If you do find the answer...be really interested to hear what it is 😀

An afterthought...if actually having haematomochrosis can 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 😖

But can't see any way to equate this to just having the gene that can potentially cause Heamatomochrosis...

And if this thinking is extended further...then taka 's reference to high levels of B12 in liver disease also factors in...since whatever the level is, you could still have a 'masked' B12 deficiency...because there's simply no folate to process the B12. Again, I think.

But only if you actually have Heamatomochrosis...I think 😖😀

[Holnee]

Could you please just clarify whether you mean "carrier" of hemochromatosis or "affected?" A "carrier" has one copy of the gene mutation but would be expected to be unaffected and have no symptoms of hemochromatosis. "Affected" means having 2 copies of the mutations and expected to eventually (even if not yet) exhibit symptoms. The answer to your question may vary depending on which you mean (I don't know the answer in either case, but if I come across something it would be helpful to know if it applies to your question).

[jde2004ss in reply to Holnee]

yes, of course, by carrier i mean one copy of the gene mutation. carriers can develop hemochromatosis, though not nearly as readily as those with both genes.

[Foggyme Administrator]

Hi jde2004ss. Another member has left a response about heamatomochrosis and gene variations in another post.

Think you'd find it interesting. Here's a link to the post:

healthunlocked.com/pasoc/po....

👍