Discussion Forums > Thalassemia Major

Again!

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Christine Mary:
IM NOT IN DENIAL CANADIAN FAMILY.IM JUST CONFUSED. I WAS TOLD MAJORS NEED CONSTANT TRANSFUSIONS TO LIVE. MY DAUGHTER RECIEVED ONLY 1 IN ALMOST 10 MONTHS, AND IS ACTUALLY GOING UP!

TO ME THAT DOESNT SOUND LIKE MAJOR.

Manal:
Hi Andy

Is Codon 27 (HB Knossos) an mRNA problem too???

Manal

Maako:
hi christine,

i would like to tell u of what my parents have told me, which seems a bit similar to lauryn's.

According to them, I got my first transfusion at the age of 7 months and i did not need another transfusion until i was 10 months. After the second transfusion, i held on for another three months and the next time another two months... but as time went the frequency grew more and the time span between the transfusions shorter, until it was regular and constant and i had to take monthly transfusions... im 23 yrs old now, and am taking regular transfusions every three-four weeks.

it maybe the same with lauryn as she grows, maybe different, only time will tell right? clinical traits vary a lot even between thals with same mutation. hope that helped, even if a little, to clarify your confusion.

just know that ure an amazing mom and i think lauryn is in great hands  :hugfriend

Andy Battaglia:
Hi Manal,

Codon 27 (HB Knossos) is also an RNA processing mutation. It is classified as a nonsense mutation. HB Knossos is considered to be a mild thalassemia mutation and most likely explains why your son is intermedia, rather than major.

Manal:
Thanks Andy for your reply. Could you please send me the links for these researches concerning correcting  mRNA processing mutation .

Thanks a lot

Manal

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