Thalassemia Patients and Friends

Discussion Forums => Thalassemia Intermedia => Topic started by: annaki on May 15, 2021, 02:46:31 PM

Title: My son with thalassemia intermedia help me
Post by: annaki 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.
Title: Re: My son with thalassemia intermedia help me
Post by: Andy Battaglia 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.