Hi Andy/All,
Firstly thanks a lot for educating me on this. Yes, so far I haven't run into any *major* problem other than an enlarged spleen + being weak all time. I thank god for taking care of me
![:)](http://www.thalassemiapatientsandfriends.com/Smileys/classic/smile8.gif)
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After reading your reply, I get a little nervous though and I'll explain you why. Please correct me if anyone finds that my understanding is wrong.
My father is heterozygous beta thal, mutation IVS1-1. My mother is Hb-E, and also there's a mutation in her which is not very common and doctors could not figure out. The basis of this argument(of having some mutation) is: if she didn't have any mutation other than Hb-E, then I would be thal-minor and not intermedia. I think Hb-E is considered benign. Right?
As per my understanding, I have IVS1-1 mutation(from father), and some other "unknown mutation" + Hb-E, which makes me BetaThal-Intermedia with Hb-E.
I guess IVS1-1 is complete absence of beta chain...isn't it? Mutation of my mom is milder and does not cause complete absence of beta chain.
You said, "in a rare case if there's a complete absence of beta chain, then it might be like intermedia". Do you or anybody in group think that based on the info state above, there's a chance of it? Should we go for CVS to eliminate chance of intermedia, if there is ? Will it be worth the risk?
Sorry if I sound a lil fussy or if i'm digging too much. But I guess, you'll will understand my situation.
Thanks,
Hallu.