please help with figuring out what is wrong

[Simonapo]

I posted recently that my Mom’s Hemoglobin is dropping, same as RBC and Hemocrit, while MCV and MCH are high. She was diagnosed with Macrocytic Anemia but doctors can’t figure out the cause. The hematologist did bone marrow biopsy, PET scan and over 50 blood test, all normal except for Copper and Ferritin high. Few days ago I had to take her to ER for blood transfusion. She doesn’t have any symptoms except for being tired and dizzy. Please advise, any help is greatly appreciated. Thank you so much.

[Simonapo]

Additional blood results above.

Here are the high MCV and MCH. All Iron, Folic Acid B12 are normal.

[Narwhal10]

Hi Simonapo,

I am sorry to read about your Mum. So, macrocytic anaemia means enlarged red blood cells.

A haematologist is a specialist in blood disorders and there are over 200 types of Anaemias. So, the why your mum has macrocytic anaemia takes some time.

One of the many causes of ‘Megaloblastic’ /macrocytic anaemias is Pernicious Anaemia/Vitamin B12 deficiency. I looked at your previous posts and I am not too impressed with a B12 level of 366 pg/mL.

We can have PA/B12D with normal ranged blood results. You say your Mum has high ferritin and copper levels. The Haematologist would have discussed if they were significantly high or just incrementally.

With exception for a recent blood transfusion, has your mother received any treatment at all ?

It maybe worth discussing together a possible trial of vitamin B12 injections. Only then, if that idea is acceptable to your mother and family put it to the Haematologist.

As Wheat suggested watch Sally Pacholok’s YouTube information.

Hope this is of some help. Please look after yourself.

😘

[Simonapo in reply to Narwhal10]

Thank you so much for taking the time to help out with so much details and information. You are correct the ferritin and copper levels were not significantly higher. Besides the blood transfusion they gave no treatment to my mom. Also based on what I read on this forum, I asked the hematologist to give her B12 injections and he sent us to the PCP who said he doesn’t do that. So I ended up buying my mom sublingual B12, and she started taking them, hopefully it will help a little. Thank you for all your help.

[Sleepybunny]

Hi,

A few links that might be of interest.

PAS (Pernicious Anaemia Society)

Based in Wales, UK. Has overseas members.

pernicious-anaemia-society....

There are two PAS support groups in USA.

pernicious-anaemia-society....

PAS membership is separate to membership of this forum.

pernicious-anaemia-society....

Testing for PA

pernicious-anaemia-society....

Thread about tests for PA and B12 deficiency

healthunlocked.com/pasoc/po...

B12info.com

b12info.com/

B12 Awareness (US website)

b12awareness.org/

Stitchting B12 Tekort (Dutch B12 website with English articles)

stichtingb12tekort.nl/english/

B12 Institute - Netherlands

Has useful lists of causes and symptoms.

b12-institute.nl/en/home-2/

Two useful B12 books

Published a few years ago so some bits might need updating.

Could It Be B12?: An Epidemic of Misdiagnoses by Sally Pacholok and J.J. Stuart (US authors).

Very comprehensive. Lots of case histories.

What You need to Know about Pernicious Anaemia and Vitamin B12 deficiency

by Martyn Hooper, former chair of PAS (Pernicious Anaemia Society)

Help for doctors

1) PAS website has a page for health professionals.

Some of this info may be specific to UK

pernicious-anaemia-society....

2) Have the doctors heard about Club B12?

This is a worldwide group of researchers and doctors looking into B12.

They have regular zoom meetings and have hosted a conference in UK.

club-12.org/

3) Useful articles to show doctors

i) B12 article from Mayo Clinic in US

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

The Many Faces of Cobalamin (Vitamin B12) Deficiency

Bruce H R Wolffenbuttel 1, Hanneke J C M Wouters 1 2, M Rebecca Heiner-Fokkema 3, Melanie M van der Klauw 1

Affiliations expand

PMID: 31193945 PMCID: PMC6543499 DOI: 10.1016/j.mayocpiqo.2019.03.002

Table 1 in above article is about frequent misconceptions about B12 deficiency that health professionals may have.

Hopefully you can access this next one, it's a UK website.

ii) Recent BMJ article by B. Wolffenbuttel

One of the few doctors (in my personal opinion) who understands B12 deficiency.

bmj.com/content/383/bmj-202...

Vitamin B12

BMJ 2023; 383 doi: doi.org/10.1136/bmj-2022-07... (Published 20 November 2023)

Cite this as: BMJ 2023;383:e071725

iii) He also wrote a article for PAS in Jan 2024.

Only One Chance

pernicious-anaemia-society....

I'm not medically trained.

[Simonapo in reply to Sleepybunny]

God Bless You for providing all this amazing information, can’t thank you enough❤️

[Hockey_player]

My mom had problems like that. Eventually she needed weekly transfusions. That sent her iron levels so high they were beyond the ability of the test to measure it. She used Ex-Jade to get rid of the extra iron. She did well for several years, but eventually her immune system started reacting badly to all the transfusions. Very best wishes!

[Simonapo in reply to Hockey_player]

Thank you very much

[Simonapo in reply to Hockey_player]

Hi, sorry to bother you again, my mom had her second bone marrow biopsy and they found everything normal, she had been taking sublingual B12 and Folic Acid for several months already with no sign of improvement, now she needs blood transfusions every other week. I am beyond worried, I don’t understand what could be wrong, I took her to 4 hematologist and had tons of testing done over the past 8 months and she still has no diagnosis and no treatment.I remembered your post about your mom. Is there anything you could share to help me with my mom. What worked, what didn’t, I am desperate and don’t know what to do to help her out. Thank you so much.

[Hockey_player in reply to Simonapo]

I think the thing that really worked is that my mom maintained a very positive attitude. Her arms got to where it was hard to get a needle in. She would give the nurses a sticker if they could get it in on the first attempt. Make sure they check on her iron. If it gets too high it can cause problems.

[Simonapo in reply to Hockey_player]

Thank you so much

[Simonapo in reply to Hockey_player]

I am sorry, one more question, were the doctors able to identify the cause of her anemia, was it B12 deficiency or something else? Can’t thank you enough.

[Hockey_player in reply to Simonapo]

They never really figured out what was wrong with her.

[Simonapo in reply to Hockey_player]

Thank you

[am111]

The 2 reasons for macrocytic anaemia are b12 and folic acid deficiency. What are the levels for these? Also check homocysteine as this is also affected by these two. As others have pointed out, you can be deficient in b12 even if serum b12 comes out ok.

[Simonapo in reply to am111]

Thank you very much, they have not tested homocysteine, nor MMA, I will ask the hematologist. Are there any other test should I request that would help? Here are the results for B12 and others results.

Iron panel

[Simonapo in reply to Simonapo]

see B12

B12

[Simonapo in reply to Simonapo]

see Folate Serum

Folate serum

[am111 in reply to Simonapo]

Folate is fine. You can get active B12 tested also. If she were on some kind of B12 supplementation, the serum B12 can be artificially high.

The results are very strange, as iron as well as B12 and folate are fine, which are the main reasons for low Hb. She could have some other serious issues that need thorough testing.

[Simonapo in reply to am111]

Thank you very much

[Sleepybunny]

Hi,

There are other forum members from USA (I've assumed you're in USA).

If you search forum posts with term "USA" then you might find other relevant posts/threads.

Films and videos about PA and B12 deficiency

pernicious-anaemia-society....

b12info.com/films/

Some info in these may be specific to UK.

If you search online for " Sally Pacholok B12 deficiency slide show" you may be able to find a presentation she gave to an anti-aging conference some years ago.

You mention that iron, folate and B12 were normal range.

Have you seen those results?

I learnt from bitter experience to always check for myself...on more than one occasion I found out of range or borderline results when I had been told all was normal.

It's possible to have severe B12 deficiency symptoms with normal range serum B12.

Might be worth posting the results for B12, folate and ferritin in this thread.

You could look into Functional B12 deficiency. This is where there is plenty of B12 in the blood but it's not getting to where it's needed in the cells so person develops deficiency symptoms.

MMA, Homocysteine and Active B12 (holotranscobalamin) may help to diagnose functional B12 deficiency. Results of these tests may be affected if taking B12 supplements/injections.

"She doesn’t have any symptoms except for being tired and dizzy. "

Might be worth looking at these B12 deficiency symptoms lists.

b12info.com/signs-and-sympt...

pernicious-anaemia-society....

Next list is from US website

b12awareness.org/cobalamin-...

Next list is from Dutch website

b12-institute.nl/en/symptom...

Have her vitamin D levels been checked?

Forum members often report deficiencies in folate, ferritin and other iron tests and Vit D as well as B12.

It's also quite common for forum members to report thyroid problems.

Might be worth putting thyroid results on Thyroid UK forum on HU.

[Sleepybunny]

Hi,

"all normal except for Copper and Ferritin high"

I've read about a condition called haemachromatosis (spelt hemachromatosis in US) where iron can build up in tissues.

I've also read about a condition called Wilson's disease, where copper can build up.

Have the doctors checked for these?

I'm not a health professional.

[Simonapo in reply to Sleepybunny]

Thank you so much, I will ask all these questions next week at our Dr appt. I appreciate all your help. Thank you again.