My son is a Thalassaemia Major

Hello All,

I am a father of 5 months old son. I am tested normal, and my wife is a thalassaemia carrier. What I don't understand is why my son confirmed as beta thalassaemia major with Hb 6.6, Hb A2 2% and HbF 98%.
Last week we check the Hb again and its dropped to 5.7.

Thanks

Hi Bernard and welcome to the site

What kind of tests did you go through?? There is a chance that you can be a silent carrier and this is only shown in a DNA test?? For your son to be a major he has to have two muted genes one from the mother and the other from the father. Did you test for other blood diorders that you may be a carrier of other than thalassemia??

manal

Hi Bernard

Welcome

You are most probably a silent carrier if your son is thal major as suggested by Manal.  Welcome to the site again.  Keep in touch, read the different previous posts, get to know how to go about dealing with the different issues which may arise and ask as many questions as you like, we will be here to help you.  You will see that if you keep in touch,  you will gain a lot by pooling into the experiences of the members having gone through the same path before you.  Prepare yourself mentally to deal with this issue.  You have to be strong for your child and from you, he will draw his strength.  Best of luck.

Jade

Hi Manal,

If I am not mistaken, the test we had through is called electrophoresis. The doctor also mentioned that our baby spleen and liver become bigger and need to do blood transfusion.

Thanks
Bernard

Before doing the blood transfusion do not forget to do the genotype and phenotype testing.  It is really important as you will see when you will read previous posts of sharmin.

T

Hi Bernard ,
  To the family , i hope you will got all the answers of your concerns and questions , its realy nice to have you here , soo please stay in-touch with us and keep posting . best regards for you your family and especialy to your Son .. may God bless him with good & healthy life full of joy and life ...

Take Care
Umair

Hi Bernard,

Welcome on the forum,Jade is exactly right,do have a genotype and phenotype testing of blood done prior to his first transfusion,because once you transfuse him phenotype testing will not be an option any more,this is necessary because when patients are chronically transfused they can sometime develop some kind of antibodies which can cause problems in the future.

Is there any chance that you can repeat your electrophoresis? and if it still comes negative then can you have DNA test done? because if your son is a thal major then you must be a silent carrier or have some other kind of blood disorder.

Zaini.

Hi Bernard,

If you were a silent carrier, electrophoresis will not show that and it is only the DNA test.

As for the spleen and the liver, it is normal that they get enlarged with severe anemia as they are trying to help the body produce more blood but when the body maintain a hb above 10, their size will retur to the normal. I would like you to read the thread below to get an idea about thal and what to expect. You can read it in this link
http://www.thalassemiapatientsandfriends.com/index.php?topic=1571.0

http://www.thalassemiapatientsandfriends.com/index.php?topic=1575.0

Also you can read about all you need to know about blood transfusion in this link

http://www.thalassemiapatientsandfriends.com/index.php?topic=2257.0

As Jade said and to avoid any complications genotyping and phenotyping tests should be done before transfusion  to avoid any future complications that might rise from antibodies formed in the your son's body.

Bernard, where are you located and how is your son doing so far? Is he normally develping? What about his eating and sleeping habits?

manal

Bernard,

There are some hemoglobin traits that are not easily found by electrophoresis. The founder of this group carried the Lepore trait in addition to beta thalassemia trait. The combination of the two results if transfusion dependent thalassemia. We have a member of our group who was tested three times as negative for carrier before having a child and the child has thalassemia. It turns out that the father carries the Lepore trait. This is one example, but there are some traits that are not easily found, so DNA analysis is the only sure solution. If you can get a DNA analysis done for both yourself and the child, it should explain everything.

We are here to offer advice and support and I am sure we have members in your country. Your child will need to transfuse and we can help guide you through everything involved.

  Hey Bernard! Welcome to the big family! 

Hi All,

First of all, thank you very very much for the warm welcome, all answer and the big support. We really appreciate it. This is the most informative and updated site so far after more than one week surfing.

I am from Kota Kinabalu, Sabah, part of Malaysia.
Just coming back from Hospital with some sad news... the hospital blood bank don't have blood for my son. I also ask the doctor regarding the Genotype and Phenotype. The doctor said no need for the Genotype, but they already do the Phenotype which is B positive, R1 R1, fyb- s-. Today HB is 5.2%. What is the Genotype for?

Today we got our second electrophoresis results which confirmed the first test. I am normal, my wife carrier, and our baby Thal Major.
The doctor also recommend us to do the DNA testing, which we will do next week.

So far, my baby still active, and the breastfeeding also still ok. We also give Similac FC milk every 3 hours for 4 oz. Only the body look a little bit pale.

Thanks & Merry Christmas and Happy New Year 2009.
Bernard