gene test

Hi all
I did a gene test for my son and the result was: IVS1-6 heterozygous. The comment in the results was that: '' if the patient isn't manifesting so this is a carrier state. If the patient is manifesting so DNA squencing is recommended for identification of the second allele."''

Anybody knows what ''allele'' mean? Or what IVS1-6 indicate?

Thanks
Manal

Hi Manal,

I dont know how to explain in simple English what an 'allele' means, but i will try.

 Allele is a part of the gene in which it represents a trait in the humans or the living organism. For each trait, each person has got two alleles.. For example, for your eye colour, height, skin colour..etc.. you have two alleles on some part of the gene, and likewise for thalassaemia also you have two..

One of these come from the father while the other one comes from the mother.. two of the alleles together make the trait..

Some alleles can be co-dominant, dominant and some alleles can be resessive, for example in the case of thal minors, u have a normal allele and an affected allele. The normal allele is dominant over the affected one and thats why thal minors ( or carriers) are not transfusion dependent..

I dont know how to explain what IVS1-6 indicates genetically, but i can tell you this much. That it is the mutation that has occured on the allele, and since it says IVS1-6 heterozygous, it means that allele is different from the other... and thats why the doctor has recommended to check for the second allele if your son show thal traits...

I know this is not so clear,    but i hope it helped to get you an idea..  I think there would be many others on the forum who would be able to give you a more clear idea of what alleles are what IVS1-6 means...

tc and all the best

  Maako

Thanks alot Maako for your efforts.

But since the test indicated that he is a heterozygous, this means that they have indicated the other one and thats why they said he is heterozygous. So why then they want to check it again? Hope that my question would be clear

Thanks a lot
Manal
 

Hi Manal,

Your question is clear, hehe, but i think my previous answer confused you...

Let me try again...

You see, each trait (and that includes thal) has got two alleles. These alleles can be either the identical to each other (homozygous) or different from each other( heterozygous).

We have thalassemia majors/intermedia (transfusion dependant) when there is a mutation on both the alleles. Therefore the mutation can be the same for two alleles or can be two different mutations in each allele.

In your sons case, one of the mutation for the thal trait on ONE of the Allele is IVS1-6. And the doctors are advising to check for the other mutation on the SECOND allele. Because ure son is heterozygous, both his mutations on the two alleles are going to be different.

Hope I havent confused you more...

Tc

  Maako