Prevention of Thalassemia(Major)

Well Mushto,

Thal minor has a bright chance (75%) to avoid a Thal. Major child. My real concerns are Thal. Major. (my case) because if they marry a Thal minor, then the chance of getting a Thal. Major child is 50-50. That's why the attitude of our families have to be changed as they are not looking at the brighter part of the 50-50 equation and are always looking at the negative part!

Hello Sajid!

Well I have some good news for you!  I went to a seminar on the weekend about a procedure called Pre-Implanatation Genetic Diagnosis (PGD for short).  I don't know if this procedure is available yet in Pakistan, but it might be in the future. 

Basically PGD allows diagnosis of an embryo BEFORE implanting it into the uterus of the mother.  So, the embryo is created through an IVF procedure (created outside the body).  The sperm and the egg are mixed together so that a sperm is able to fertilise the egg.  Once a sperm is inside the egg the cell has enough genetic material to POTENTIALLY become a human (one copy of every chromosome from Mum and one copy of every chromosome from Dad).  The cell divides to two cells, the two cells divide to four cells, and the four cells divide to eight cells.  This usually takes about 2-3 days.  On the third day, the embyro is looked at under a microscope and using a VERY fine needle, one or two of the eight cells can be removed.  Testing the DNA in these cells will tell us whether the embyro is a thal minor, thal major, or a non-carrier.  The parents are then able to make the decision to transfer the embyro to the mother's uterus where it grows as a normal baby!  Yay! 

The reason that one or two cells can be removed at this early stage without causing any damage is because the cells are what is called PLURIPOTENT.  This means that these cells are all exactly the same and haven't made any decisions about what they will be when they grow up.  This is what an embryo stem cell is. In a couple of days some of the cells will decide to become part of the placenta and some of the cells will decide to become the baby.  As more cells are made, more decisions will be made and some cells will become skin cells, heart cells, liver cells, etc. and these cells cannot change.

PGD can also be used to test an embryo for an HLA type match with a sibling.  So if you have a child with thalassaemia major and you are trying to get a bone marrow match you can test the embryo for the same tissue type before transferring it to the mother. 

Regulation of PGD varies between countries, states, and regions.  Using PGD aid people overcome ethical issues they might have with prenatal diagnosis and the choice of terminating a pregnancy with an affected foetus.

That's why the attitude of our families have to be changed as they are not looking at the brighter part of the 50-50 equation and are always looking at the negative part!

Anyway, all I wanted to let you know is, that if you used this procedure you could have a 100% chance of having an unaffected child...if you wanted.  That should sort your families out!  :hug

Sal.

PS. There is a fact sheet on PGD found here: http://www.monashivf.edu.au/library/factsheets/pgd.html
This is one of the centres that can do this procedure in Australia.

Hmmm.... This seems to be somewhat similar to the procedure that is called "Baby Choice by The Test Tube method" that is available here in Pak to ensure which sex of baby the parents want; this is another controversial issue and these centers have a hard time keeping up and running with all those women-rights organizations bugging them all the time.

Anyway Sal, this really is a great news! It would be better that these centers change their services from sex screening to disease screening!

Well Sajid - it could indeed be the same procedure. 

It would be better that these centers change their services from sex screening to disease screening!

    I believe that one country has already encountered difficulty with allowing sex selection of embryos - can be very hard to find your son a wife if the rest of the population is male!  There is a natural equality of the sexes for a reason!  Not to mention that women are wonderful beings! 

ANYWAY!  Getting back to the screening for thalassaemia.  If you can have access to this service there is no longer any reason that families could have an issue with marriage!  What do you say?

Miaki,

That was a wonderful story to post. And, that is such an important lesson for all of us thals.

Thank you for sharing that with us.

Poirot