Thalassemia and PA

[EllaNore]

Hello, I've been telling everyone I know about PA, and so far two friends quite possibly have it. One definitely. But my nieces husband and daughter have Thalassemia. A very rare genetic blood disorder. When i googled it, I was surprised to see it can be linked to b12d and PA. Does anyone here have this and PA? I'm worried that if Thalassemia runs on the dad's side and possible PA runs on the mother's side (my side), what does that mean for their children? One daughter tested positive for thalassemia. I sent them a bunch of PA Info. But would like to know more about this from anyone that may have it.

My niece said her daughter 5 yrs old, shouldn't have children with anyone who had the Thalassemia gene defect. So was worried about a double whammie if Pa runs on one side and Thalassemia on the other.

Thanks so much.

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

[yagoubs]

Hi, I am 60 years old and have PA and Thalassemia alpha trait. But I only discover this 4 years ago when my B12 scores dropped below 10! I started injections then turned to sublingual (Microlingual) methylcobalamin tablets one year ago. All is well and B12 score is mid 500 now.

[EllaNore in reply to yagoubs]

Good morning yagoubs, I'm so glad all is well with you. Wow 10 on the b12 levels. I think that is the lowest I've ever heard. I'm so glad they found it. Thank you so much for the info. I sure hope everything continues to go well for you.

[FlipperTD]

Scientist, not medic.

Thalassaemias are genetic conditions where the genes coding for the Globin parts of the Haemoglobin molecule are 'different'. They are a wide range of conditions, and vary considerably in severity. Many are found by chance, and lots will never be discovered at all. They are widely distributed around the globe, and have a similar distribution to the prevalence of Malaria, but that is another story. The one thing they tend to have in common is that the red cells of folks with Thalassaemia traits tend to be smaller. Typically an MCV of less than 70fl, compared to the rest of us with MCV in the 80s and 90s.

Here's the diagnostic problem [or one of them!]: In B12 [or folate] deficiency, we tend to produce larger red cells; the classic macrocytosis, with an MCV of over 100fl. Thalassaemics, with smaller red cells, still get megaloblastic change in their bone marrow and produce bigger cells, but they're far less likely to get into the macrocytic range.

So, the B12-deficient Thalassaemia Trait patient could be overlooked because their MCV isn't raised. Likewise, they could be mistaken for iron deficiency because their red cells are small. A friend's son was treated for iron deficiency when about 18 months old. He had microcytosis and a mild anaemia. We were surprised to identify the fact that he had Alpha Thalassaemia. When he was a bit older, he learned a great deal more about it than most of his doctors.

Thalassaemias are a very diverse group, and many go undiscovered, but should be considered when presented with unusual cases.

[EllaNore in reply to FlipperTD]

I love your answers FlipperTD. I prefer scientist over medic. Science doesn't lie. Thank you very much for for this answer. I'm going to share it with my niece. I think being armed with as much knowledge as possible is the only way to stay on top of your health in situations like these. It is all so complicated, but I've learned so much in such a short time. Science is everything. Thanks so much.

[Sleepybunny]

NHS link about thalassaemia

nhs.uk/conditions/thalassae...

There is a UK charity "United Kingdom Thalassaemia Society"

ukts.org/

When I looked online there were several associations supporting those with thalassaemia in US.

[EllaNore in reply to Sleepybunny]

That is so great! thanks so much sleepybunny! I will pass this all on.

[Dandeli0nsroar]

Hi, I'm in my 30s and have PA and alpha thalassemia trait. My husband doesn't have it so i guess we are safe to still have kids. Not a doctor but as i understand, it is quite a consistent guideline that if parents both have alpha thalassemia trait, there is a high chance the offspring would suffer major issues or be incompatible with life. For PA i guess it is treatable even if transmitted and has a separate treatment anyway. The trait itself doesn't quite need treatment unless it causes anemia.

[EllaNore in reply to Dandeli0nsroar]

Thank you for clarifying, Dandeli0nsroar,

Yes, I believe that is true. My niece said something to that regard too. I think she would have to make sure her partner in the future doesn't have the trait. The odds are small but not impossible to accidentally create a life with two people with the gene. That would be a hard position to be in. Sorry for your conditions. I hope your PA is under some kind of control. 🤞

[Dandeli0nsroar in reply to EllaNore]

Ah yes and another thing. Due to having both conditions, the blood cells might not look like typical PA. If i understand rightly, PA tends to give macrocytic cells and alpha thalassemia gives microcytic so it balances out.

[EllaNore in reply to Dandeli0nsroar]

That is weird you say that as I have contradictory blood cell sizes. I feel like PA is causing one size and something else is causing another and I feel it is confusing my blood work. I have felt that for quite a while now but didn't know how to word it or put my finger on it. What you said is how I feel. But I don't have Thalassemia. I have several other autoimmune issues though that are causing that kind of contradiction in my RBC's, in my opinion. Just a feeling I have had.

[Dandeli0nsroar in reply to EllaNore]

Yes it could be another condition confounding it, so it's good if your doctor knows your various conditions before evaluating the blood tests. Even being a carrier for a condition can cause it.