Just wondering which is better??!!

Manal Hi

IVS1-6
HB Knossos codon 27


This report did not mention wether they both are beta? Did it?
Also there should be one more mutaiton right if he is alpha.

I think IVSI-6 is Beta.

Chk this link :http://www.liebertonline.com/doi/abs/10.1089/gte.2006.0521

Hi Puja,

IVS1-6 is a beta and the other one which is the HB Knossos is a mutation in the processing of the m(RNA). Therefore the information that is going to the other beta is wrong that is why it is not working properly

i.e the other beta is okay but receiving wrong information from the m(RNA) and that is why is not forming good blood.

We never tested or told to check for alpha and i don't think we have it as Ahmad is considered a sever form of intermedia not a mild one

manal

Indeed, it's a quiet long time I was not posting, just for time. But now i try to be around.

You find out that your son has also IVS 1-6. This explain why he has a sever thal intermedia. When you told me about HB Knossos i was surprised, because by my knowing it is a Hemoglobin variant an will cause a mild anemia.

To my amazement now you are an expert on the subject in this short time. Congratulation Manal, I know you will find the best way for your little angle.

Thanks Gabri for the compliment, actually i am still learning

manal

Gabri, it is so good to see you back posting again. I look forward to your informative posts.


Manal, the reason I asked about alpha is because your son has what is considered to be a more severe intermedia and he currently has low Hb, but his physical condition seems to be quite good. Alpha is one of the possible moderators as it would reduce the amount of free alpha globin in the blood which would create a less severe phenotype. On the other hand, I wonder if one reason that thals with similar genotypes might not be equal physically is because some people are naturally more fit than others.

Andy, if alpha mutation is there too shouldn't it improve the HB or increase it in addition to creating a less severe phenotype??

manal

I don't think the Hb would be any higher with an alpha mutation added to beta. That would still be dependent on the amount of beta globin being produced. It would reduce the free alpha globin chains that cause additional problems, so the phenotype would be milder. There could also be some other genetic modifier at work or it could just be that Ahmad is naturally a healthier child.

Manal, it's true, you are still learning but you are learning fast

Thanks Andy, I'm glad to be back.

Concerning the alpha mutation add to a ß-mutation I've found this articles:

Pathophysiology of ß Thalassemia—A Guide to Molecular Therapies
http://asheducationbook.hematologylibrary.org/cgi/content/full/2005/1/31

Mild thalassemia: the result of interactions of alpha and beta thalassemia genes
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=322517

Thanks Gabri , they are very informative

manal

Thanks, Manal.

Family and work keeps me fully occupied - but, I will try to be more active in the future. And, now with the global  financial meltdown, my work is keeping me on my toes!

But, I usually respond faster to emails - so, that is the best way to reach me if anyone has a question that needs a quick response.

Cheers

Thanks Poirot May God bless you. I hope things would change and there  would be more stability. Definetly i will email, you have a wealth of expierence

take care

manal