Discussion Forums > Thalassemia Major

First Transfusion

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Lisacroft:
Hello Everyone,
    I have a question. My little boy just turned a year old yesterday. He was diagnosed with Beta Thalassemia Major when he was 6 weeks old from the Newborn Screening Test. We were told then that he should start getting transfusions around 6 months old. He still has not had to be transfused. He still has 98% Fetal Hemoglobin. The say that is unusual so they are re-doing his mutation test to see if they missed anything. Does anyone know at what age his fetal hemoglobin should shut off. I read somewhere about Hereditary Persistent Fetal Hemoglobin. Does this sound like that,  or do you think the shut off of his fetal hemoglobin is just delayed? The doctor seems to think that it is probably just delayed. Has anyone ever heard of this? I guess I am just trying to hope that it the HPFH because I heard that this will make his Thalassemia a lot milder. Thanks for any information that anyone can provide.

Sharmin:
Lisacroft,

It would be great if your child has persistent fetal hemoglobin.  Even if it is just a delay in the switching off of the fetal hemoglobin your child will do well.  Your child is born at a great time as management of thalassemia has become better than ever. 

Please keep us posted,

Sharmin

Lisacroft:
thank you

Canadian_Family:
In newborns, fetal hemoglobin is nearly completely replaced by adult hemoglobin by approximately 6 months postnatally, except in a few thalassemia cases in which there may be a delay in cessation of HbF production until 3–5 years of age.

Andy Battaglia:
Lisacroft, has DNA testing of the child been done yet? With 98% HbF at year old, you can be certain the child is thal major, but DNA testing would reveal the specific gene deletions. Some complete deletions seem to "leave room" for the gamma gene to keep working and producing HbF. All thal majors should have DNA testing done, if possible. This is becoming more important as treatment becomes more refined, and we are beginning to see therapies in development that will be tailored to the individual's needs.

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