Checklist for thal majors?

Hello everyone,

As I mentioned before my almost 2 month baby is thal major. I am going over this forum to understand what steps I should take during my baby's treatment.

From the forum I learned, so far, that I should get the following done:

1- contact Colleys Anemia Foundation (I've done so)
2- contact one of the excellence centers (will do so)
3- get phenotyping and genotyping done before transfusion (will ask doctor)

Other than the above, what else should I get done?

Thank you

Congratulations on the new arrival. I think you are on the right path...Get your child's hemoglobin checked every month to decide when is the right time to start transfusion. sometimes, it is as early as 3 months (for us that was the case) or it could start when the child is 1 year old...watch out for signs, if you are not doing the Hgb check - low appetite, crankyness, lethargy etc...but don' get too caught up in these..

Enjoy having your child and count all the blessings...when our daughter was born we were an emotional wreck when we learned of the condition and almost forgot to smile and enjoy having her till we met Thalpal and Andy on this site. so. do not do that.

You are doing all of the right things.  That is all you need to do right now in terms of managing thalassemia - as Bostonian has said now you can focus on enjoying your bundle of joy.   Once your child is ready to be transfused she will be on a transfusion schedule, between transfusions you will likely forget that she has thalassemia at all.  A well transfused child is a healthy child and should not display any signs of being unwell.  And that should be our job too, believing that our kids are healthy and treating them as healthy, normal children. 

Management has become much easier in the 14 years that we have known about our son's thalassemia and it will get easier yet in the future.  Our children are intelligent, athletic, creative and happy - yours will be too . Please feel free to pm me anytime - I will give you my contact information in case you need someone to talk to. 

All the best to your family and congratulations on the new bundle of joy:)

Sharmin

Thanks for the replies and reminding me to enjoy my baby. Once I found out about this illness, I was so confused and lost. I searched online, only to come from it crying and in desperate hope. I thought I would be losing my daughter. It wasn't until I discovered this forum and read the posts, that I realized there is hope in fighting this thing and that my child can live a normal life. I feel like I know you both because I have read your stories. I am now considering this as a common illness that can be managed rather than a chronic illness that is a death sentence. I see my baby and don't even think she has any illness. Maybe that's because she hasn't started transfusions, but still, I feel she will be as healthy as anyone and there is no reason to feel bad for her. She means the world to us and we will help her any way possible.

I also put things in perspective after reading about and talking to others about their struggles many years ago. I cant imagine what they went through. I feel I am blessed to have support, help and hopefully a cure on the way. I will remain positive even when it may be hard. I think the only time it will be hard is when the transfusions begin and worrying if she gets anything bad from the blood. But Im sure you all are going through that. Hopefully one day the cure will be available. InshaAllah it will be.

Thanks
BabyI's mom

The one test I would recommend be done right before the first transfusion is a hemoglobin electrophoresis test, so that you have a baseline to go by for possible future considerations, such as use of hemoglobin inducing drugs.

Andy-thanks. I think they gave her that already to determine if she was thal major.

Update:

Doctor showed me the results of all the tests. From them she is assuming that my other daughter may have alpha thal minor. She isn't sure. I told her I will be going to Cornell Medical as well. She was pleased and said she will send our info to them to help her figure it all out.

I set up an appointment for Nov. at Cornell with this top doctor in thalassemia. I am very impressed with all she is involved in regarding thalassemia and insisted I see her.

When my doc called Cornell, they suggested my baby take Folic Acid pills (crushed with milk).
What do you all think about that? Think it will benefit?

Btw...my baby hemeglobin count was 10 this time. Last visit it was 11. I'm praying it doesn't go down so soon.
Her bilirubin was checked cause she still seems to have some jaundice. It was an 8 and doc said it was fine.

The reason for a second electrophoresis would be to give a more accurate view of the true percentages. This cannot be done at birth, as the percentages change greatly during the first six months.

All thals should take folic acid as it is necessary for the health of red blood cells. The hospital you have chosen is excellent and I am familiar with Dr Giardina and have met her a couple times. She has been gracious enough to answer questions passed on by members of this group when I have encountered her.

The jaundice is fairly common in thals and is related to the breakdown of RBCs. If the doctor gives you any tips on countering jaundice and the yellow appearance the skin takes on, please pass the advice along, as it is a common topic here.

I would also like to see the test results. Is a DNA test planned? If alpha is suspected, a DNA test will prove quite valuable to understanding how the child needs to be treated.

Thanks Andy. I know we discussed the DNA test and will discuss more with Dr. Giardina. I am looking forward to hearing from her and giving us a plan since right now there are so many unknowns. I didnt get any advice for the jaundice so far and will let you know more once I do. Here are the test results:

Baby I:

RBC Count 4.42
Hemaglobin: 12.2 (has since fallen to 10)
MCV: 76.2
Hgb A- 0%
Hgb F- 100%
Hbg A2-0%

I can give more if you need it.

Thanks

The complete lack of HbA2 does suggest that alpha trait may also be present, along with a beta zero thalassemia. If this is so, the diminished production of alpha production is actually a positive thing, because it means there will be less unmatched alpha globin in the child's blood, so this reduces some of the problems caused by these unmatched alpha chains. Alpha trait is a moderator of beta thal, so carriers of alpha often have a somewhat less severe thal. This can have an affect on things like frequency of transfusion, although is also affected by the quantity (not percentage) of HbF produced. It should be considered a positive thing if alpha is also present.

Thanks Andy. Yes I was reading about that. The doctor didnt really know (or couldnt conclude) that my baby has aplha thal or not, but she did feel my older daughter most likely has the alpha trait. When I was told that, I was hoping my baby had it too for the reasons you suggested (making it less severe and such). But I think once I go to Cornell and talk with Dr. G then hopefully I will get definate answers since my doctor even told me she would welcome the help figuring everything out.

But Do you think that maybe, if my baby has the alpha trait, that it could prolong when she would have to start transfusions? I am hoping it will be delayed as much as possible.

Thanks

Wanted to update:

I took my daughter to thal excellence center with Dr. Giardina in NY. She was very nice and explained everything. She said nowadays they don't just look at the hemeglobin level to determine when to transfuse.  She said they will look at health of baby as well. If my baby is growing and her hemaglobin is 7 then they won't transfuse. Only if she isn't growing or there are changes to face or she isn't eating well then they transfuse. She said just looking at hemaglobin level is outdated. Do you all agree?

Also she is going to do DNA test to determine what exactly my daughter has.
My daughter is often fussy and sometimes not eating well but I don't know if its just normal behavior or something serious. I worry I may miss something.

Thanks

Wanted to update:

I took my daughter to thal excellence center with Dr. Giardina in NY. She was very nice and explained everything. She said nowadays they don't just look at the hemeglobin level to determine when to transfuse.  She said they will look at health of baby as well. If my baby is growing and her hemaglobin is 7 then they won't transfuse. Only if she isn't growing or there are changes to face or she isn't eating well then they transfuse. She said just looking at hemaglobin level is outdated. Do you all agree?

Also she is going to do DNA test to determine what exactly my daughter has.
My daughter is often fussy and sometimes not eating well but I don't know if its just normal behavior or something serious. I worry I may miss something.

Thanks

Hb is most important.

Low levels usually causes fatigue or "mood swings". Hence many thal majors 2-3 days before the transfusion are tend to have mood swings or feeling restlessness due to lack of Hb.

Although I'm not a doctor, Andy's advise maybe more beneficial.

-P.

Our last checkup it was 7.9 and they said it was fine...

A hemoglobin level of 7 is the traditional point where chronic transfusions begin. Many doctors will transfuse the child before then, regardless of their growth and development, but some doctors weigh each case on its own merits, as Dr Giardina is doing here, and in order to delay the advent of chelation, they will also delay transfusing as long as the baby is doing well without taking blood. One of the values of the Centers of Excellence is that each patient is treated as an individual and the treatment program is designed for that patient.

Went today. Hemeglobin was 8.2. Found that strange but doctor said that it goes up or down some because its bit 100% accurate. Baby is growing so that's good.