Baby M's Mama

Hello,

My (now) 4 month old daughter has been diagnosed with beta thal major (b+/b0, but the production by the b+ is negligible per our hematologist).

My husband and I both knew we were carriers and there was a possibility she would be beta thal major. We had all of our doctors- genetic specialists, obgyns, peds, in the loop about this to do whatever we could at birth to handle asap. Her newborn screening did NOT pick up the beta thal major and so we initially thought we were in the clear. However, around 3 months she began to show paleness in her skin and we took her for a blood report which indicated her hgb had dropped to 5.0. Genetic reports are now in and it's confirmed. Posting her results here for anyone that has any comments:

Hemoglobin A2- 1.8%
Hemoglobin F H - 96.7%
Hemoglobin AL - 1.5%
Ferritin - 174 mcg/L

DNA change: Codons 8/9 +G, heterozygous
HGVS: c.27dupG, p.S10VfsX14

DNA change: IVS-I-5, G>C, heterozygous
HGVS: c.92+5G>C


My husband and I have been in shock since we learned the news. We had tried everything to stay clear of this very situation and actually had an in vitro/pgd appointment setup before she was conceived. I learned I was pregnant one week before our program was to start.

The journey has been depressing. I realize now from this site that every specialist I have been working with (several in NJ and VT, before and after the delivery) was not knowledgable enough about thalassemia and I need to get myself relocated near a Thalassemia Center of Excellence ASAP. I have been in talks with Boston but they seem to want me to stay with my local hospital for administration of the transfusions and monitoring but I do not feel comfortable with this setup at all. Does anyone have any comments about where the transfusions/chelation therapy should preferably take place?

She had her first transfusion before her genetic report came in because it was so low. After one month of monitoring her weekly, her hgb has only dropped 1 point from the initial transfusion. Initially it seemed our doctor wanted to watch her behavior, but now after the genetic results she is being setup on a transfusion program. This is where we are now at.

Any advice, suggestions, comments for this stage are deeply appreciated.

Not much to say, you are taking all the right decisions and steps so far. Good think you are not in denial like most of the other parents in the beginning. At this point, you should focus to gain knowledge on how to manage Thalassemia.

This website is the best resource for thalassemia knowledge.

Hello Syeda,

First of all Congratulations on the new arrival. You are at the right forum to get all the information needed to keep your daughter healthy. Your daughter will be fine. Thalassemia is now a totally manageable disease so please do not get worried and depressed. Just get more educated and be a voice for your child till she can do it on her own.
Now to your question of whether to get relocated near a Thalassemia Center of Excellence. Personally I think you need not get monthly transfusion at the Thal center for excellence but MUST get seen yearly by a Thal center for excellence. If Boston is the closest Thal center of excellence, you can probably take an appointment with the hematologist there pretty soon and get your daughter checked and get a protocol from them for the monthly transfusion monthly tests to be done etc) and share that with your local doctor and follow it every month. Then, do a yearly follow-up at Boston.

Thanks Bostonian_04  for the inspiration.All of us need it very much.

 Thalassemia is now a totally manageable disease so please do not get worried and depressed.

Thanks for the feedback everyone. We've setup our Boston appointment- earliest we are getting is late July.

in the grand scheme of things that should be OK . In the mean time, it may be a good idea to ask the doctor from Boston what else you could do before the visit if your daughter needs another transfusion. i think a detailed genotyping before regular transfusions is a good idea to avoid future issues. and there could be others. so asking the question will help you.

When I asked them about this, they indicated they did a detailed genotype/phenotype search before her first transfusion. However, this was also before her genetic test was in. Is there anything the genetic test additionally offers which can help with matches for transfusion?