Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)

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Offline Andy Battaglia

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #15 on: April 16, 2011, 09:19:11 PM »
I believe both mutations are beta 0. I think this further verifies that first child is not a carrier, as some anemia would probably be present by now, unless there is a co-existing undiagnosed alpha mutation also present. Sharmin's son is a beta 0 major. At one time this meant a more severe thal, but with modern treatment, there isn't much, if any real difference. Knowing the mutations of the parents helps the techs because they know exactly what they are looking for in the genes, because each mutation will have specific characteristics that can be observed when the DNA is tested.


 
Andy

All we are saying is give thals a chance.

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Offline Ginni

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #16 on: April 16, 2011, 10:15:04 PM »
Dear Andy,

I am sorry i dont understand what is "beta 0" but yes the mutation studies was for beta thalassemia and both me and my wife are beta thal carriers. Even our first child is also a beta thal carrier. His Electrophoresis report is appended in this post which i posted a couple of weeks back. 
What made you say that " this further verifies that first child is not a carrier"

I am even more confused now.

Thanks

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Offline Andy Battaglia

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #17 on: April 16, 2011, 11:03:18 PM »
I'm sorry. I forgot you had posted the report on the 5 year old. Sorry for the confusion. His test results are not bad for a minor. He may tire a bit more quickly than other children, but at this age he probably won't have any problems. I don't recall if you have ever mentioned if you or your wife have any problems with anemia. Do you know your own Hb levels? Beta 0 genes produce no beta globin, because they are deleted genes. This means that a child carrying both thal genes present in you and your wife, would be a thal major. There is a 25% chance of this with each pregnancy. Beta 0 usually manifests itself as noticeable anemia in carriers, unless they also carry the alpha mutation, which can help to moderate the anemia because a better balance of the two globins is produced. Sharmin and her husband both carry beta 0, but her husband has always had a higher Hb level because he also has an alpha deletion.

There is no way to predict the results of the CVS. The wait must be gut-wrenching for parents. But since you can't do anything about that, it's best not to dwell on the results, but rather objectively assess your life situation, both emotionally and financially in advance of the findings, so you have a better idea of how you want to proceed once you do know, should a decision need to be made.



Andy

All we are saying is give thals a chance.

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Offline Zaini

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #18 on: April 19, 2011, 04:11:18 AM »
Ginni,

Best of luck  :hugfriend i hope and pray your baby is thal free,i can remember the time when i went through this "wait" and how killing it was,i hope the results are worth it :bighug .

Zaini.
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Offline Ginni

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #19 on: April 19, 2011, 06:51:11 PM »
Thank You Zaini.
True; its difficult to get thru this wait time but keeping my fingers crossed.

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Offline Sharmin

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #20 on: April 19, 2011, 08:56:28 PM »
Ginni,

Sending you my beset - praying that your baby will not have thal.

Sharmin
Sharmin

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Offline Ginni

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #21 on: April 20, 2011, 03:58:22 AM »
Thanks Sharmin.. Thank you Guys for all your prayers and best wishes.

Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #22 on: April 20, 2011, 08:09:25 AM »
Hi All

My case is also going in the same way.My wife is also 7 week pregnant & today we have gone for Mutation Testing & CVS dats is 11 May.

As my first baby is Thal Major so just having doubt of when they will do the HLA/Stem cell matching

Regards
Sushil Aneja

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Offline Zaini

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #23 on: April 21, 2011, 03:32:19 AM »
Good luck with the test Sushil :goodluck .

Zaini.
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Offline Ginni

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #24 on: April 23, 2011, 12:29:20 PM »
My Dear Friends and Well Wishers

A good news to share. The CVS result is out and the fetal DNA report confirms that the baby is only a beta thal carrier and has thal trait. It has only one abnormal beta globin gene.

I would not be wrong to assume that the baby has only Thal minor and no major / intermedia.

The result is as below

Father Mutation : 619 bp deletion
Mother Mutation : Fr 8-9
Fetal DNA : Positive for Fr 8-9, Negative for 619 bp deletion
Maternal DNA contamination Test : No significant maternal DNA contamination detected.
The fetus is not likely to suffer from disease.


Thanks to all for your kind wishes and your prayers.

 

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Offline Sharmin

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #25 on: April 23, 2011, 02:57:28 PM »
Congratulations Ginni, I am so happy for you!  I wish you good health during the pregnancy and when the baby arrives!
That is truly great news!

Sharmin
Sharmin

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Offline Cari

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #26 on: April 23, 2011, 03:14:48 PM »
 :yay

So happy for you !!!  Wishing your wife a very happy pregnancy!!!

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Offline Andy Battaglia

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #27 on: April 23, 2011, 03:23:11 PM »
Sigh of relief. Time to relax and make sure mom has a healthy happy pregnancy.
Andy

All we are saying is give thals a chance.

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Offline mrzahed

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #28 on: April 24, 2011, 06:05:24 PM »
In this case can we do cord blood banking and plan for stem cell transplant

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Offline Zaini

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Re: Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)
« Reply #29 on: April 25, 2011, 03:34:35 AM »
Ginni,

I am so glad to hear that  :veil :veil say congrats to your wife for me.

Zaini.
^*^Xaini^*^

 

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