Is further testing useful for this alpha thal carrier?

Sleepy

8

Is further testing useful for this alpha thal carrier?

« on: July 18, 2013, 05:04:20 AM »

Hi all, just wanted to write an update of where I'm at and new questions swirling in my head. So after having a consistent ferritin level of around 30 whenever it's been testing for many years despite doing my best with iron supplements at long last I have had an IV Iron treatment! This was yesterday and I am so very hopeful it will help me achieve a better level of wellness. This was authorized by my hematologist who is the one who tested me for alpha thal.

My questions are these....
1) Even though I only have one alpha2 globin gene deletion (3.7 kb if that means anything) - meaning I'm supposedly a "silent" carrier - I do have the blood profile for alpha thal low MCV, high RBC, lowered (but not low) Hg. Soon now that the anemia will finally be addressed, it will be interesting to see whether my blood will finally look normal or not. What I'm wondering is whether being a carrier can interact with iron deficiency to magnify the impact of both conditions?

2) Looking over my DNA analysis report it says "Since this test does not detect all alpha gene globin mutations, additional testing should be considered if the clinical symptoms of alpha thalaseemia are present." At this point (unless the IV iron fixes it) I do have clinical symptoms.....is it worthwhile to push for more testing?

Any thoughts/advice much appreciated as always!

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Andy Battaglia

8793
Gender:
Will thal rule you or will you rule thal?

Re: Is further testing useful for this alpha thal carrier?

« Reply #1 on: July 19, 2013, 12:21:50 AM »

Hi Sleepy,

Iron deficiency would also lower the MCV. Even though your MCV is lower than "normal" for silent alpha carriers, there is a significant margin of error in this measurement. (Silent carriers are listed with an MCV of 81.2±6.9). The MCV of women is also a couple points lower, so you're at the low end of the range for an alpha silent carrier. Normal Hb for a female carrier is 12.6±1.2, so again you're on the low end of normal but within range for a silent carrier. I don't think you have a severe IDA if it is present.

Because you do appear to have had an ongoing IDA probably due to monthly blood loss, I would advise that you wait until seeing if the IV iron raises your ferritin. It should also raise your Hb. I would suggest waiting for any further DNA investigation until you see if the IV iron has had an effect on your ferritin level.

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Andy

All we are saying is give thals a chance.

Sleepy

8

Re: Is further testing useful for this alpha thal carrier?

« Reply #2 on: July 19, 2013, 07:53:08 AM »

Thanks Andy! I'll report back on this thread and let you know how it all works out. I definitely don't want to lobby for more DNA testing and expense if it isn't really needed. I still feel like I'm looking for my answers for my lifelong lack of vitality issues, not sure how much to blame on the alpha thal, or then maybe it's IDA, or then maybe it's hypothryoidism (which was mild as well) but then maybe all three added up together to be greater than the sum of their parts. Anyway, will keep ya posted thanks for your help!

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