My son with thalassemia intermedia help me

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My son with thalassemia intermedia help me
« on: May 15, 2021, 02:46:31 PM »
Good afternoon, we are from Greece. I have b thalassemia trait (IVS-I-1 G->A) and my husband has a silent mutation (-101C>T) . Our son has both genes and has b thalassemia intermedia.
Please give me some information.. Here in Greece they told us that he is going to have a normal life without transfusions but I am in anxiety. He is a newborn and has not be done any blood test yet.

Thank you very very much, I am really happy I found you.
« Last Edit: May 15, 2021, 03:02:28 PM by annaki »


Offline Andy Battaglia

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Re: My son with thalassemia intermedia help me
« Reply #1 on: June 14, 2021, 10:05:27 PM »
The -101C>T mutation is indeed a silent mutation and the child should have the outcome of a thal minor, but more likely a minor with hemoglobin on the lower end of normal for a thal minor. The outcome will be determined by the IVS-I-1 G->A mutation, as that is a beta zero mutation.
Good nutrition is an important part of the program of thal minors, especially when the minor is a result of a beta zero mutation.

All we are saying is give thals a chance.


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