Greetings from new member

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Greetings from new member
« on: September 20, 2016, 01:54:44 AM »
Hello All,
First post from a new member here. First off thanks to Andy and all the other wonderful posters here who are sharing valuable information and answering queries.

37 year old Indian origin male from the US here. My wife and i are expecting a baby. Recently she was told by her doctor that she has Thalassemia. I got tested positive for Thalassemia as well.

Diagnosis  is identical for us and as follows:
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Alpha -+- thalassemia trait, alpha alpha/alpha -
Mutation(s) identified: alpha 3.7

Interpretation:

This result is most consistent with this individual being an unaffected carrier of alpha - thalassemia with a single gene deletion also called alpha-+-thalassemia trait
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We went for genetic counseling yesterday . We were told that there is a 25% chance that our kid might have symptoms ranging from mild anaemia to more severe, 25% chance that the baby might not have Thal, and 50% chance that the baby will be like us(i am assuming silent carrier). Would like to know more about this diagnosis from the more knowledgable folks here

Seems my wife was not tested for beta thalassemia.I am not sure why.
Currently we are trying to get more information on the alpha thalassemia, and the  amniocentesis test.
Neither of us heard of thalassemia before, but seems one in three people of Indian or South Asian origin have thalassemia. I am very surprised at how prevalent thalassemia is.

Thanks and regards to the posters here,

Khich






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Offline Andy Battaglia

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Re: Greetings from new member
« Reply #1 on: September 24, 2016, 05:11:46 PM »
There is no danger to the child if each parent carries only one deleted alpha gene. At the most, the child would carry two deletions and be an alpha minor, possibly with a slightly low Hb and mild anemia at most. If this is the case, L-methylfolate supplements will help improve the Hb. There is no possibility of anything worse than thal minor, based on this information.
Andy

All we are saying is give thals a chance.

Re: Greetings from new member
« Reply #2 on: October 04, 2016, 01:51:17 PM »
Andy,

Thanks for the note. Sorry for the delay in responding, but i was waiting for a follow up appointment with the Genetic counsellor. We got a call on the weekend from him saying, he did some further research, and that as we are both having a single gene deltion, at most the baby will be a carrier. We met him in person yesterday and confirmed the same.

So the diagnosis is exactly what you wrote! I will post the numbers from the hemoglobin electrophoresis test soon.


Thanks for all your help Andy

Regards,
khich



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Offline Andy Battaglia

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Re: Greetings from new member
« Reply #3 on: October 08, 2016, 09:10:07 PM »
If any of you have low Hb, folate supplements are the best solution.
When your children are older, they will need to know their own status, so as to avoid having children with other alpha carriers.
Andy

All we are saying is give thals a chance.

 

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