thal minor couple

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thal minor couple
« on: February 24, 2018, 04:36:13 AM »
Hello Friends

Alright so i am thal minor and my would be is also minor (reports attached).

so my questions are as under:

1. Is she really thal minor with hb A2 of 3.9? Someone told her she is borderline case. Any other test required?
2. Is CVS the only option after marriage.
3. My major doubt is in the case of thal intermediate. Will the cvs test accurately catch intermediate or to reframe it, is there a chance that they confuse
    intermediate with minor( my major cause of worry).

4. To be an intermediate are both genes required or a minor can sometimes slip into intermediate category?
5. I have been reading threads on the forum and thanks to it and especially Andy, i have gained enormous knowledge. This has led to another doubt, if
    we both have the same mutation or deletion, will it be harder to detect major in the cvs test. Could the same gene mutation or deletion be read as
    minor instead of major.
6. What other tests need to be performed for a clearer picture and from where can i get these done in Delhi. My hb is 13 so is there a case of me
    carrying the alpha trait as well?   
7. Is IVF PGD a viable option?( she is just 26 yrs old).
8. I came to know of my status when my sister was diagnosed thal minor. ( her husband and child are both thal free)

I have been really tensed since i came to know of my would be's report.

I would be really grateful if you can answer my questions

Regards

Re: thal minor couple
« Reply #1 on: February 26, 2018, 02:29:54 PM »
Guys i am waiting for a reply.
Your suggestions and inputs would be of great help to me.
I dont want to consult a doctor with an empty mind. I should know what to ask and make the most of the meeting.

Regards

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Offline Andy Battaglia

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Re: thal minor couple
« Reply #2 on: March 02, 2018, 10:59:18 PM »
1. The other numbers all do look like thal minor. It may be a beta+ that is mild and results in a lower HbA2 or there could be a delta deletion as well, which would lead to lower HbA2, or even a coinciding alpha deletion. The low MCV and high RBC, though definitely look like thal minor.
2. IVF and PGD can be used to pick an embryo that does not carry thal. For determining the status of the fetus, amniocentesis can be used later than CVS.
3. The CVS test would catch if the fetus carries 2 thal genes, as in intermedia.
4. Minors can sometimes become intermedia if the beta gene defect is dominant. This is rare.
5. It won't make any difference in the CVS if you both carry the same gene mutation. Both will be seen.
6. DNA analysis can be done if needed to determine the specific gene mutations. Alpha will be found only if they run a DNA test for alpha thal. The beta test won't look for it.
7. Yes, IVF and PGD is an option but it requires both patience and the funds to do it.
8. Family members should all be checked when thalassemia is found in a member of the family.
Andy

All we are saying is give thals a chance.

 

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