Thalassemia Patients and Friends

Discussion Forums => Thalassemia Intermedia => Topic started by: Teng on April 23, 2014, 01:19:56 AM

Title: PGD not working?
Post by: Teng on April 23, 2014, 01:19:56 AM

 Hi Andy,

I am an alpha thalassemia minor (heterozygote for the southeast Asian alpha-thalassemia- deletion (--sea/alpha, alpha)). My husband is a silent carrier (heterozygote for the rightward single alpha globin gene deletion (-,alpha 3.7/alpha, alpha)). Our son has HbH disease (-,alpha 3.7/--sea).

My husband and I are considering having a second child. (We are 39 and 36 years old).

I have read the previous threads on this topic and here are my questions:

1. I was told by a doctor at Assisted Reproduction Center that PGD would not work for us because it would not be able to detect the deletional form of alpha thalassemia. Is this true?

2. If PGD works, ideally, the best way for us will be PGD + IVF + HLA matching, right?

Thank you very much.  :hugfriend

Teng
 

Title: Re: PGD not working?
Post by: Andy Battaglia on April 25, 2014, 03:37:03 PM

I am trying to find an answer, but the doctor I asked has yet to reply.

Title: Re: PGD not working?
Post by: Andy Battaglia on April 27, 2014, 10:14:20 PM

No reply from the doctor. but I did find the answer. Alpha thal can be detected by PGD. A quick search will show many sources for this info.
This page includes a list of disorders that can be screened for with PGD. Both alpha and beta thal are listed.
http://www.californiaivf.com/genetic-diagnosis-PGD-CGH.htm

Title: Re: PGD not working?
Post by: Teng on April 30, 2014, 02:47:20 AM

Hi Andy,

Thank you for always helping us to find an answer. I went to the link you gave and found the following:

"Single Gene Disorders - Disorders or diseases caused by the inheritance of a single[bgcolor=#FFE100] mutated[/bgcolor] gene. Diseases such as Cystic Fibrosis, Tay Sachs, Alpha and Beta Thalassemia and Sickle Cell Anemia are examples of a [bgcolor=#FFD700]mutated[/bgcolor] gene."

They mentioned mutated gene, but they didn't say whether thalassemia with deleted genes can be screened.  :huh

 ??? ??? :huh
Teng

Title: Re: PGD not working?
Post by: Andy Battaglia on April 30, 2014, 02:05:22 PM

I would suggest contacting them to learn more about what they offer.

Title: Re: PGD not working?
Post by: Teng on April 30, 2014, 10:57:31 PM

Thank you so much!  I will email them tonight.   :thankyou2 :lovethissite