Seeking advice and help~

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Offline Jerry

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Seeking advice and help~
« on: February 24, 2009, 03:57:23 AM »
Hi everybody, I am new here from Malaysia, I am so glad that I found this particularly useful knowledge base for Thal patients. Before I start posting any further, please bear with me for my poor english.  :-\

I was diagnosed with Alpha Thal carrier, before I go any further for a DNA test, I would like to find out do I fall under Thal minor or Thal trait? They seem to be the same for me. Unfortunately recently my partner also diagnosed with Alpha Thal trait through blood test, perhaps the same type as mine, therefore I would like to seek for some good advice here, reason being we are planing to have a baby in near future. Would a test tube baby be able to avoid from being a Thal Major? I do appreciate for any advice and help given.

Regards,
Jerry
whatever we doing, god is looking...

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Offline Andy Battaglia

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Re: Seeking advice and help~
« Reply #1 on: February 24, 2009, 04:08:33 AM »
Hi Jerry,

Please read our topic at http://www.thalassemiapatientsandfriends.com/index.php?topic=1772.msg14793#msg14793  It explains much about alpha thalassemia. I will give you some basics. There are four alpha hemoglobin genes. If one gene is deleted it is silent carrier alpha thal. If two are deleted, it is alpha thal trait. If both you and your wife have two gene deletion, there is a possibility that you could have a child with 3 or 4 deleted genes. Three gene deletion is HbH disease and can require transfusions. If all 4 genes are deleted, the baby will not survive the pregnancy without transfusions in the womb, so it is a very serious situation. The best thing to do is get DNA analysis done for both you and your wife. There is one configuration where you both could be two gene deleted carriers and still only have a two gene deleted child, so the specific type of deletion has to be known. DNA testing will also tell you if you need to consider IVF to make sure the embryo is not affected.
Andy

All we are saying is give thals a chance.

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Offline Zaini

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Re: Seeking advice and help~
« Reply #2 on: February 24, 2009, 09:39:54 AM »
Hi Jerry,

 :welcome2

As Andy said,DNA test will give you a clear picture,we wish you best of luck with planning your baby.

Andy,what will happen if one partner is silent carrier and one partner has alpha thal trait?

Zaini.
^*^Xaini^*^

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Offline Jerry

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Re: Seeking advice and help~
« Reply #3 on: February 24, 2009, 10:42:15 AM »
Thanks Andy for the information, and
Thanks Zaini for the warm welcome~

I will post up the DNA test result once I have done it.

till then, cheers
whatever we doing, god is looking...

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Offline nice friend

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Re: Seeking advice and help~
« Reply #4 on: February 24, 2009, 10:51:30 AM »
Hi Jerry ,
I hope you will be fine ..  :welcome2 , its nice to have you in this community . please dont hesitate to askk anything that you want to know about ,i hope you will find answers of all your concerns .. Please start & then keep posting messages , keep in-touch with us . share your experience with us .. do, wat ever you want to do here , dont hesitate its your own community ...

Best Regards
Take Care
Umair
Sometimes , God breaks our spirit to save our soul.
Sometimes , He breaks our heart to make us whole.
Sometimes , He sends us pain so we can be stronger.
Sometimes , He sends us failure so we can be humble.
Sometimes , He sends us illness so we can take better care of our selves.
Sometimes , He takes everything away from us so we can learn the value of everything we have.

===========
Umair

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Offline Lyanne

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Re: Seeking advice and help~
« Reply #5 on: February 24, 2009, 11:40:13 AM »



 :welcome2  I hope you all the best! Please be at home and update us.You've come to the right place. :hugfriend
LYANNE :yahoo

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Offline Sharmin

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Re: Seeking advice and help~
« Reply #6 on: February 24, 2009, 11:42:51 PM »
 :welcomewagon

Welcome to the site!!

Sharmin
Sharmin

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Offline Jerry

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Re: Seeking advice and help~
« Reply #7 on: February 25, 2009, 10:48:51 AM »
thanks~ u guys are great, and I am feeling so warm here... =)

Will go and do my DNA test tomorrow. No matter what the result is, I still need to face it...
whatever we doing, god is looking...

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Offline KHALIFA

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Re: Seeking advice and help~
« Reply #8 on: February 25, 2009, 11:46:56 AM »
Hi Jerry
     that what i call it face the fact and the real life go a head and there is a lot of friend all over the world will be with you and supporting you ...
    :kissy :flowers :hithere :urwelcome :welcomewagon :thumbsup :high5
                          khalifa
                   state of kuwait
RED_PILOT

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Offline Sharmin

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Re: Seeking advice and help~
« Reply #9 on: February 25, 2009, 09:20:45 PM »
Jerry,

Best of luck,  I hope that you will be spared from having to make any difficult choices.  In the event that you do, we are all here to support you. 

Best,
Sharmin

Sharmin

Re: Seeking advice and help~
« Reply #10 on: February 26, 2009, 07:07:47 AM »
Seems like Jerry and I are facing the same problem, and another coincident is- We are both from Malaysia! So may be mod can help to merge our post together.

Jerry:
May I know where do you do your DNA test? and roughly how much would it cost, you can PM me the detail, thanks...

Re: Seeking advice and help~
« Reply #11 on: May 29, 2009, 07:09:32 AM »
Hi,

I'm Jerry's wife. Finally after so many visits to hematologist and long waiting for the report, we got our DNA analysis result today. In fact it is not a report but just a letter.

As expected, we are both are same Alpha Thalassemia carriers and explained by the doctor, we are 2 alpha genes deletion.

The letter is as below:
This is to inform you that DNA amplification of the α-globin gene region between the ψα-α2 globin genes, and the ψα2-θ1 globin genes performed on the DNA extracted from Me & Jerry confirms both to be α-thalassemia carriers. Both possess the Southeast Asian deletion (--SEA) responsible for α-thalassemia in this region and therefore are at risk of producing a foetus/baby with Hb Bart’s hydrops foetalis.

We are quite dissapointed as it is not a details report but just a letter and the doctor explaination is too general. She even doesn't know that IVF can prevent the 25% of Major Thal if we want to have baby.

I would like to seek your help to assure us if the letter really means we are 2 alpha genes missing?
So the only way we can go is IVF if we want to have a healthy baby?

Many thanks in advance!

Regards,
sixling

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Offline nice friend

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Re: Seeking advice and help~
« Reply #12 on: May 29, 2009, 02:01:36 PM »
Hi Sixlling ,
i m posting this message to asure you that you will find your answer very soon just keep visitng ...

Best Regards
Umair
Sometimes , God breaks our spirit to save our soul.
Sometimes , He breaks our heart to make us whole.
Sometimes , He sends us pain so we can be stronger.
Sometimes , He sends us failure so we can be humble.
Sometimes , He sends us illness so we can take better care of our selves.
Sometimes , He takes everything away from us so we can learn the value of everything we have.

===========
Umair

*

Offline Andy Battaglia

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  • Will thal rule you or will you rule thal?
Re: Seeking advice and help~
« Reply #13 on: May 29, 2009, 02:36:47 PM »
Hi sixling,

Without IVF, there will be a statistical 25% chance of having a child with all 4 alpha genes deleted. This is known as hydrops fetalis. In most cases, the fetus dies in the third trimester because it cannot produce any useful hemoglobin. In some rare cases, a child has been saved while in the womb with in utero transfusions. These children are transfusion dependent after birth and have a condition similar to beta thal major, but unlike with beta thal major, there is no possibility that the baby can survive birth without intervention while still in the womb. The only way to avoid this chance is to go through IVF, where only embryos that don't carry the alpha deletion would be used. Because both you and Jerry carry the same type of deletion, there is no possibility of the child having 3 gene deletion HbH disease.

25% may seem to be a low risk but when the child inherits the deletions from both parents the odds don't matter and we see so much of this in parents who took the risk with beta thal and ended up with a major child, that I have to say you really should not risk it. IVF is the only real solution. I realize that no parent wants to hear this but it is far better to be informed of the possibilities so that the tragedy of a stillbirth can be avoided. The health of the mother also needs to be taken into account and there is some risk with pregnancies where the fetus has all 4 alpha genes deleted. For a thorough review, see http://bloodjournal.hematologylibrary.org/cgi/content/full/91/7/2213

Quote
There is an increased incidence of serious maternal complications in these pregnancies. It is likely that the placentomegaly is one important causative factor. It was estimated that half of these women could die from complications resulting from these pregnancies if there was no medical care.10 In a study of 46 women who were pregnant with affected fetuses, 61% developed hypertension during pregnancy, of whom half developed severe pre-eclampsia.5 Polyhydramnios was present in 59% of the cases. Eleven percent suffered antepartum hemorrhage as a result of either unknown cause or placenta previa. Other less common complications included disseminated intravascular coagulation, renal failure, and pleural effusion. Oligohydramnios, abruptio placenta, premature labor, and congestive heart failure have also been reported.53,54,58

The mean gestation at delivery was 31 weeks with a range of 24 to 38 weeks.5 Malpresentation of the infant during births occurred in 37% of the cases. Thirty-eight women delivered vaginally, 10 of whom experienced difficulty including 3 necessitating paracenteses to decrease fetal ascites to facilitate delivery. Caesarean section was performed in 8 women. Post-partum complications include retained placenta, hemorrhage, life-threatening hypertension, puerperal pyrexia, and anemia.

I wish I could give you a different answer but as I said, it is best to be properly informed. IVF is costly and may take several attempts but it is the only way you can go into a pregnancy without taking this 25% chance. To me, the odds are meaningless because I know too many families where the 25% chance of having a beta thal major resulted in 2-4 majors in the family.

Andy

All we are saying is give thals a chance.

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Offline Zaini

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Re: Seeking advice and help~
« Reply #14 on: May 29, 2009, 05:25:27 PM »
Andy,

CVS can't help in this situation?

Zaini.
^*^Xaini^*^

 

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