thalassemia genetic testing

I am in a pretty difficult situation, and therefore for the first time I decided to post on a blog because I really dont know who can help me. Both my husband and I tested positive for Beta thalassemia. We got HPLC testing done three time, which confirmed that we were Beta Thalassemia. I got pregnant 3 months ago and am preparing for my CVS testing this Friday. The geneticist asked us to get genetic testing to find out the exact mutation which is causing Beta thalassemia so that they could test for that in the fetus also. Unfortunately, while the genetic test showed my husband's mutation, it came back normal for me. The doctor confirmed that it happens in 2-5% cases where the sequence testing doesnt provide the results. In these cases they recommend deletion testing and even with that there is a possibility that they are unable to identify the mutation. And sadly the test takes 4-6 weeks. So I will be well in my 20th week before I find out what is going on. And if the deletion testing fails then doctors dont have any other options.

I wanted to understand, if anyone else has gone through such a situation? And what else should I be doing to expedite or really learn my mutation or test the baby for thalassemia major?

Hi 2013newstar,

Both me and my wife are thal minors. In our case, mutation sequence testing found the mutation for my wife but didn't for me. But a subsequent deletion testing found the mutation. That test took 4 more weeks unfortunately. You can read more about our mutations in my post:
  http://www.thalassemiapatientsandfriends.com/index.php/topic,4068.0.html

CVS is done in 11-13th week, but amniocentesis can be done between 16-19th week. We opted for amniocentesis. I guess at that time, we opted for amnio because of the slightly lower miscarriage rate in amnio versus CVS. But when I think about it again, we were in the similar simulation as  yours. My deletion mutation was found only in 14th week.

Have they already started deletion analysis ? Lets hope that will find the mutation.

Which lab/country are you doing the testing ? We got it done in US here from Quest labs.

Thanks,
Sumit

Welcome to thalpal 2013newstar,

Was the Alpha Thalassemia Minor testing done along with Beta Thalassemia Minor testing on you and your wife?

Sumit has shared his experience and that would hopefully alleviate some of your concerns. Stay positive and hope for the best.

Hi Sumit and Narendra,

Thanks for the post. Yes they have started the deletion testing, the sample was taken in Stanford, CA but the testing will happen in Children hospital of Philadelphia. They sent the sample to the wrong lab and I just gave the sample again yesterday.

Fingers crossed and hoping for the best. But it is aggrevating that we have to wait so long to find out.