First Transfusion

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.

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

thank you

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.

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.

Andy,
   I know he had the mutation test. He is adopted so therefore, we don't know anything about his parents. I know his mother must have had only the trait, because I never knew her to have any transfusions. Although, I don't "really" know her either. I never knew his father.  They are doing another mutation test to see if they missed anything... we won't know anything until August.

Andy,
    Hello, my little boy is now 16 months old. I took him to the doctor on Thursday because he kept pulling at his ear. I thought it was probably an ear infection... well I was right, it was an ear infection. While we were there I had them take his blood for a CBC just in case and it came back as 8.7 hb. That is the lowest, it has ever been. I am really worried now that it has begun to drop. He has had ear infections in the past and it never got down this low. I go back on Thursday to have it re-checked and to have a retic test done. Please pray for him. I really hope that it is just down due to the infection. How low should I allow it to get before we start transfusions, and for how long?

Lisa

Hi Lisa,

Don't worry too much, as it probably is the infection that caused the drop in Hb. Be patient and see if his Hb rebounds once he is well. It may take a few weeks to rebound.

Thank you Andy... I really do try not to worry, but I am new to the whole Thalassemia thing and a little freaked out by the whole thing. I have read that my son can have a normal life, however, I have also read a lot of horror stories. I just want to make sure that I am doing everything that I should to keep my little man as healthy as he can possibly be. He is my WORLD. We go his Retic test back and it was 3. I'm not sure if that is good or bad for him. Also, the nurse at one of the care centers that we go to asked about folic acid since his Hgb is at 8.8. His specialist has never mentioned folic acid to me. Is this something that he should be taking? Again, Andy thank you so much for all your help.

Yes, folate helps build red blood cells and platelets and is recommended for thals. The best form is L-methylfolate.

The retic count will be higher than normal in thals, as the bone marrow is more active, and more red blood cells are produced when the Hb is lower than normal. The count will rise as Hb drops.

Andy,
     So is 3 high? The lady that called with his results just said that his retic count was normal. He has an ear infection, so would this cause his hb to drop to 8.8. It was 10.3 before the infection? Would it drop that much from an infection?

Lisa

A retic count of 3 is a bit high (normal is .5-1.5), but that's normal when the Hb is below normal. The Hb can drop a couple points in thals when they have infections, but it could also be that his Hb has started dropping. You'll know within a few weeks if it rebounds. If it doesn't and continues to drop, planning for transfusion should be done. Any delay in transfusion like this is a positive, as it also means a delay in when chelation begins, which becomes easier to manage as children get a little older.

We're probably going to see a new drug approved in the next 5 years that will greatly reduce or eliminate the need for transfusions in thals. The future is looking very hopeful.

Hi Andy,
    I took Aiden back to the doctor yesterday to re-check on his ear infection and while we were there, I had them re-check his hbg and it was 9.9. It seems to be going back up. I am soooo happy. Thank you so much for all of your advice and support. I will keep you posted on our journey.

Lisa

Lisacroft,

That is great news!

That's really good to hear, Lisa.