Can beta thalassemia major or intermedia be diagnosed after regular transfusions

Good day,

Question:

Can beta thalassemia major or intermedia be diagnosed after regular transfusions?

Reason:

The only tests performed on my son (8 months at the time) was a Hemoglobin electrophoresis which showed the abnormality in the hemoglobin levels. Since then he has been on regular  transfusions. We have decided to have another child (prenatal testing within the first 10-12 weeks) with the hope that BMT or CBT can be done.

Thanks,
Alicia & Shastri.

To confirm a diagnosis of beta thalassemia or intermedia genetic testing can be used. 

I wish you the best with your next pregnancy. 

Thank you.

I was wondering if the leukocyte depleted blood that he receives during transfusions would cause a problem in determining the precise form of thalassemia.

Most of the labs will offer: β-Thalassemia: HBB (Full Gene Sequencing)

Kind regards.

Hi,
For your first child  major or intermedia diagnosis is based on whether or not the child has a need f or regular transfusions. If so it is considered major.

Before going for another child spend some time researching options. Finances and location matter.
You need a test called PGD preimplantation genetic diagnosis. This test is done along with IVF. It can save you the heartache of abortion decisions.  There is a 1 in 4 chance of a baby with thal major so even if only few viable embryos produced good chances for a healthy baby. They will test first and then implant only healthy ones.

Getting a match for transplanting your other child is more complicated. For this you need HLA alongwith IVF & PGD.  However a match is not so easy to find. According to the doctor I spoke to even with 40 embryos there cannot be a guaranteed match. It is luck to a great extent. I know one family with 3 other kids and 2 were a match but that is very rare. I have 2 other children but no matches.
Going the IVF +PGD+HLA way can make sure your next child does not have thal major and also increase your chances of it being HLA matched to your first child.
There are many centres that provide this worldwide. Find the one nearest you.
Best of luck.
Zahra