Wife's Beta Thal Minor - Can we determine Beta+ or Beta0 via HPLC test?

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Hello,

Odd question here. My wife was diagnosed a long time ago with Beta Thal Minor. We recently got pregnant, and to my surprise I was notified that, because I have either a triplicated or quadruplicated alpha chain, our child is at increased risk of developing Beta Thal Intermedia (BTI).

From our genetecist there are a few things that will determine whether our child does end up developing BTI (I hope this information helps someone in the future):
  • If my wife has the more severe mutation (Beta0) or less severe (Beta+). If less severe, chances are lower that the child will experience major BTI symptoms. We're currently waiting for genetic results to determine whether my wife has the Beta+ or Beta0 gene. In the meantime, is there a way to determine which one she might be based on her HPLC (blood test) results or even from her symptoms (of which she has had none. Was slightly anemic once but could have been caused by her vegetarian diet?)?
  • If I have the alpha homozygous triplication gene (aaa/aaa) or heterozygous quadruplication (aaaa/aa). With the homozygous triplication gene, I have a 50% chance of passing it on, whereas it drops to a 25% chance of I have heterozygous quadruplication. What are the chances of one vs. the other?
Thanks for your help and guidance!

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Offline Andy Battaglia

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Re: Wife's Beta Thal Minor - Can we determine Beta+ or Beta0 via HPLC test?
« Reply #1 on: October 16, 2021, 07:00:46 PM »
The fact your wife has had few symptoms suggests beta+. Does she have a normal hemoglobin level? If she has been tested for her genetic mutation, I can research it to see if it's beta+ or beta zero if I know what the mutation is.

I don't think percentages factor into whether or not you carry a triplicated or quadruple mutation. It's based on whatever you received from the parent who carries it.

The problem with triplication is that far too much alpha globin is produced. When combined with the low beta globin, it creates a huge imbalance in globins and the alpha globin will form tetramers that are harmful and can create a beta intermedia like condition, where transfusions can even be necessary at times. This would be worse in beta zero, because the imbalance between alpha and beta globin is even higher.
Andy

All we are saying is give thals a chance.

 

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