Thalassemia Patients and Friends

Discussion Forums => Thalassemia Minor => Topic started by: sittingmoose on September 21, 2021, 06:31:24 AM

Title: Wife's Beta Thal Minor - Can we determine Beta+ or Beta0 via HPLC test?
Post by: sittingmoose on September 21, 2021, 06:31:24 AM
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):
Thanks for your help and guidance!
Title: Re: Wife's Beta Thal Minor - Can we determine Beta+ or Beta0 via HPLC test?
Post by: Andy Battaglia 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.