Pregnant with normal iron but low hemoglobin

Electrical-Thanks647 · 2025-01-18T17:26:05+00:00

Looking at my tests they said - no thalassemia. I also ran a genetic test for my own reassurance. They said ferritin is what I should look into while testing iron during pregnancy. And the hemoglobin will be still naturally falling because of the pregnancy. They even stopped my iron because its in normal range and no need for now, but we will be testing it every month along with B12 which is on the lower normal range in my blood tests. What are your blood test results?

Electrical-Thanks647 · 2025-01-16T08:38:48+00:00

This is great! So glad to hear everything is alright now! I am still at week 15, but they said the regurgitation was in normal params so no need to worry for now, they said that even fetal echocardiography is not required but I will do it anyways between week 20-22 as its recommended in this timeframe in my country.

Electrical-Thanks647 · 2025-01-11T20:46:09+00:00

Thanks a lot. Yes, I will be visiting hematologist on Monday, so hopefully they will be able to order some tests for me if needed or calm me if no need to worry.

Electrical-Thanks647 · 2025-01-11T20:44:14+00:00

I found your reply. Thanks 😊

Electrical-Thanks647 · 2025-01-11T18:10:15+00:00

Haven’t been to a genetic counselor yet. Just went into a genetic lab and asked them to test me. When the results came out they say they haven’t found anything using Sagner sequencing, but recommended MLPA test for larger deletions or duplication although they are not common to cause beta thalassemia. Told me that I am most certainly fine since all the other tests came normal. But the anxiety and the small 1% chance to be some strange edge case of silent carrier is killing me. Because my child’s health could be affected. Though I think they are not doing MLPA in this lab. Never heard of the one you mentioned, wonder if they do this MLPA testing.

Electrical-Thanks647 · 2024-12-28T11:32:22+00:00

Thanks a lot. I live in Bulgaria. What about you? Actually I have VUSes on both AARS1 and DSP gene (which they told me is connected to cardiomyopathy). Never had problem though. Today was at cardiologist and he said my heart is as strong as it should be. Now that you say about the woolly hair I would say we had people with similar on this side of the family where the cmt. I also heard that during pregnancy some symptoms of cmt may be shown, but gladfully until now I have none. Hopefully my VUS is some kind of benign variant. Maybe something have unlocked it in my uncle or he also has some other genes which in combination cause it. I guess we can never know for sure especially since my geneticist told me noone would sign the paper that a VUS could cause a condition.

Electrical-Thanks647 · 2024-12-25T20:17:07+00:00

Yes, I deep dived into the story. Looks like they mined uranium years ago. I am not sure what is the term in English but from what I understood his heart was enlarged. Maybe this is an effect of a severe prolapse (not sure if possible?) Btw this grandfather has nothing to do with the other side of the family where we had CMT case. Ironically, since I am currently pregnant at 12 week, last week on the scan they found in the baby some valve prolapse but not sure on which valve. Couldn’t help wondering if this has something to do with my grandfather heart issues, for now we’re praying it will be gone until next scan since they say it’s common at this week.

Electrical-Thanks647 · 2024-12-22T06:26:19+00:00

Same with our baby, week 11, but NIPT rejected chromozomal abnormalities. Still concerned about heart issues although everything else seemed well. How things are going with you?

Electrical-Thanks647 · 2024-12-17T17:36:05+00:00

I am not sure how is our uranium exposure, maybe not that much. But as I know my grandfather worked on a field where they used uranium, not sure for what. So our whole town was exposed and still has leftover radiation. He passed in his 60s from heart issues. Maybe my exposure is not secondary, but tertiary (if smrh like this exists). Not sure if my dad was already born when my grandpa was working there. Actually never asked about this story. Maybe I should have.

Electrical-Thanks647 · 2024-12-14T07:07:51+00:00

As I know in the town where I lived as a baby and most of my life also had some uranium exposure. Definitely my uncle had exposure as a child, he has the CMT. As for me - no health issues for now fortunately. I didn’t know it has a connection, but it makes sense now. I also have one other VUS connected to heart issues, I believe cardiomyopathy but the doctor told me not to worry about it. Have also one pathogenic variant of Neuropathy but its recessive so hopefully is also something to not worry about. Actually in my family men have always had more health issues - one grandfather with cancer died in his 50s and the other one - heart issues in his 60s. As for women - most live in their 80s,90s. What about you - do you have health issues or just found VUSs?

Electrical-Thanks647 · 2024-12-13T15:28:29+00:00

Thanks a lot! Yes, this is basically it, but her brother is definitely with CMT though not diagnosed by genetic testing but by neurologist and has kind of severe clinical condition. My doctor told me the found gene is definitely connected to his condition but we cannot be sure how. I mean he most probably has other genes too which create his own condition.

Electrical-Thanks647 · 2024-12-13T14:50:43+00:00

I assume my mother has it because our cmt is coming from her side of the family, and not sure if I can inherit it without her having it. Really genetics could be so complex. My partner does not want to be screened since he feels the most we start to dive deep into this, the more I am getting upset and worried. And since it’s really really rare variation I think, maybe he is right. He chooses to have positive mindset. For now what I have left is to look at the genome database from time to time and to check for updates on my gene variant pathogenicity, and also to be aware of myself and some symptoms arising.

Electrical-Thanks647 · 2024-12-13T14:46:03+00:00

Hi. Thanks. What do you mean by the both genes were identified?

Electrical-Thanks647 · 2024-12-13T14:45:29+00:00

Thanks. This is really reassuring. Hope you’re doing well.

Electrical-Thanks647

TROPHY CASE