alpha thalassemia carriers (partner match)

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Offline AAB

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alpha thalassemia carriers (partner match)
« on: November 05, 2014, 09:39:16 PM »
Hi. I’m new here and I would like some advice please.
Me and my partner had a Haemoglobinopathy screen test (HPLC)

My results showed that I’m a probable carrier of an unidentified alpha chain variant. No evidence of thalassemia. HPLC screen for HB: Abnormal peak detected.
HbA=80.8%
HbF= 0.0%
HbA2= 2.2%
HbAbnormal=17.0%

On the other hand, my partner results showed that he is alpha thalassemia carrier.
HbA=97.9%
HbF= 0.0%
HbA2= 2.1%


I want to know what are the possibilities of getting a healthy child? we have been told that 50% the child will be alpha thalassemia major, and 25% he will be disabled, so we are left with only 25% of having a healthy baby! :(

We spoke to a doctor about PGD-IVF (Pre-implantation genetic diagnosis), she said with PGD, we can get 100% healthy children.

We still didn’t get married, and we were planning to do that.
I’m worrying about the results..
should we brake up? or get married and do the PGD.. anyone has a successful experience with PGD?


Thank you very much in advance,,

Regards,,

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Offline sofear

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Re: alpha thalassemia carriers (partner match)
« Reply #1 on: November 05, 2014, 10:51:38 PM »
I'm not sure where you are from, but if a PGD is allowed in your country, you should do it. Is there anything that would prevent you from doing a PGD? I know it's a controversial topic for some people.

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Offline Andy Battaglia

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Re: alpha thalassemia carriers (partner match)
« Reply #2 on: November 06, 2014, 04:08:07 AM »
Your partner's test shows nothing unusual. Why was he told he's an alpha carrier? Where are you located?
Andy

All we are saying is give thals a chance.

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Offline AAB

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Re: alpha thalassemia carriers (partner match)
« Reply #3 on: November 06, 2014, 08:58:04 AM »
I'm not sure where you are from, but if a PGD is allowed in your country, you should do it. Is there anything that would prevent you from doing a PGD? I know it's a controversial topic for some people.

It is allowed in my country..
I would like to hear from someone who did it before
thank you for your reply..

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Offline AAB

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Re: alpha thalassemia carriers (partner match)
« Reply #4 on: November 06, 2014, 09:00:40 AM »
Your partner's test shows nothing unusual. Why was he told he's an alpha carrier? Where are you located?

Hi
thank you so much for your reply
we did the test in dubai
then I re did the test again in the UK and the results.are exactly the same for me.. my partner didn't do it again.
It just says on the paper that he is alpha thalassemia carrier,
can you please explain more to me what do u mean?
Also, do u suggest redoing the test in somewhere else?

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Offline AAB

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Re: alpha thalassemia carriers (partner match)
« Reply #5 on: November 06, 2014, 01:37:28 PM »
Your partner's test shows nothing unusual. Why was he told he's an alpha carrier? Where are you located?

The report say:
the HPLC analysis shows a normal pattern. However, Normal Hb A2, Microcytosis and Hypochromina are suggestive of ALPHA THALASSEMIA. In carrier state, alpha thalassemia is clinically not significant.

Thank you,,

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Offline Andy Battaglia

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Re: alpha thalassemia carriers (partner match)
« Reply #6 on: November 06, 2014, 06:06:43 PM »
The comments (Microcytosis and Hypochromina) are why alpha thal is suspected. You have not been correctly informed about the chances of having an alpha major (probably zero chance). If your partner does prove to be an alpha carrier, he is more likely a single gene carrier, which would eliminate any possibility of the major form of alpha, which is not compatible with life outside the womb. My advice is a DNA analysis for both of you to determine exactly which type of alpha is present. I am still not totally convinced on your partner, as iron deficiency could give the same results. Please go for further testing.
Andy

All we are saying is give thals a chance.

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Offline AAB

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Re: alpha thalassemia carriers (partner match)
« Reply #7 on: November 06, 2014, 11:08:31 PM »
The comments (Microcytosis and Hypochromina) are why alpha thal is suspected. You have not been correctly informed about the chances of having an alpha major (probably zero chance). If your partner does prove to be an alpha carrier, he is more likely a single gene carrier, which would eliminate any possibility of the major form of alpha, which is not compatible with life outside the womb. My advice is a DNA analysis for both of you to determine exactly which type of alpha is present. I am still not totally convinced on your partner, as iron deficiency could give the same results. Please go for further testing.

Hi again..
I don't have alpha major,, I'm just carrying abnormal gene in the alpha chain
and my partner doesn't have alpha major, he is just alpha thalassemia carrier
Both of us are healthy
I thought what we did is a DNA analysis, is there a specific name for this DNA analysis test you are recommending?
Sorry I didn't get what do you mean by which type of alpha is present.
Thank you again for your reply..

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Offline Andy Battaglia

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Re: alpha thalassemia carriers (partner match)
« Reply #8 on: November 09, 2014, 04:49:10 PM »
Neither of you can have alpha major as it causes death before birth.

A DNA analysis looks at the alpha globin genes themselves and would tell you the exact alpha deletions or mutations you both carry. There are 4 alpha globin genes, two in each of the two clusters, and either one or both of these genes on a cluster can be affected. Once you learn what is affected in each of you, you can determine if there is a risk of producing a child with HbH disease, which affects 3 of the 4 genes or if your children would simply be carriers like the parents.
Andy

All we are saying is give thals a chance.

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Offline AAB

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Re: alpha thalassemia carriers (partner match)
« Reply #9 on: November 10, 2014, 04:35:01 PM »
Neither of you can have alpha major as it causes death before birth.

A DNA analysis looks at the alpha globin genes themselves and would tell you the exact alpha deletions or mutations you both carry. There are 4 alpha globin genes, two in each of the two clusters, and either one or both of these genes on a cluster can be affected. Once you learn what is affected in each of you, you can determine if there is a risk of producing a child with HbH disease, which affects 3 of the 4 genes or if your children would simply be carriers like the parents.

Thank you very much for your reply..
its all clear now
I'm not sure where can I do this test, as our haematologist didn't offer it for us
I will ask for more details.

Thank you very much again.. I appreciate your help :)

Kind regards,,   

 

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