Couple with b-thalassemia - help please

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Couple with b-thalassemia - help please
« on: January 22, 2014, 12:42:25 AM »
Hi there,

I have recently been diagnosed with Beta Thalassemia when I underwent a Hb electrophoresis test. I wanted to know my options if I was to marry another person with B-thal, how can I ensure the child does not inherit thal major. I heard you can undergo PGD & IVF, has anyone done this? I would love to know first hand experience if possible like what are the rough costs/risks when choosing this option?
A second option that I came across was I heard you can test the embryo at around 11 weeks for possible issues and abort if thal major detected? Has anyone done this?? What are the steps for this test? Any risks involved? costs? Again would love to know from first hand experience if possible.

Does anyone know any other options out there? Are there vaccines that the couple can inject prior to conceiving etc? like to lower the risks.

I know the risks for 2 b-thal carriers to have a thal major baby is 25%, to me thats an extremely high risk, are there any ways of reducing this risk. Im very afraid of risking having a 1 in 4 chance of a thal major baby. My father lost 2 sisters because of thal major when he was younger, luckily he only got thal minor.

My results from the Hb electrophoresis test are as follows:

HAEMOGLOBIN EPG (Whole EDTA Blood)
Haemoglobin A2: 5.2%
Variant Hb AlkEPG: NOT DETECTED
Haemoglobin F: 1.0%
Haemoglobin H Bodies: NOT DETECTED
Haemoglobin F film screen: POSITIVE (+), HETEROGENEOUS

Thal Conclusion: Consistent with BETA THALASSEMIA TRAIT

Are there any other tests that I should undergo to make sure im 100% b-thal? Or is the Hb electrophoresis test sufficient to tell me so?

Any insight would be extremely helpful.

Thanks so much for your time everyone and I'm anxiously waiting for your replies.



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Offline Andy Battaglia

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Re: Couple with b-thalassemia - help please
« Reply #1 on: January 22, 2014, 03:59:07 AM »
There is no way to change the possibility of having a child with thal if both parents are carriers. I don't think the 25% has much meaning in the real world. I've known several families with 3 majors.
PGD/IVF can work. It is costly and parents must be ready to accept disappointment, but shouldn't be discouraged because it often takes more than one try (just as natural pregnancies do).
CVS can be used to detect if the fetus is thal major. Some do choose to abort at this time. Cost and risk would be the same as any abortion and varies depending on where you are located.
One other option is adoption.

The high HbA2 indicates beta thal minor, and family history would confirm it. A DNA test would leave no doubt, but it seems unnecessary considering the family history.
Andy

All we are saying is give thals a chance.

Re: Couple with b-thalassemia - help please
« Reply #2 on: January 22, 2014, 04:24:23 AM »
Thanks so much for your reply! Gosh, doesnt leave me with much choice, I dont think I'd be able to cope with all that. Since adoption is not a choice for me, and me basically playing with a great risk, I dont know how i'll break it to my partner.

Do you know the effectiveness/accuracy of the CVS? also does it take long for results? CVS seems to be a better option, if we were to go ahead with it. Otherwise just bite the bullet and go our separate ways... which will be hard & painful

 

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