Again!

I know of a similar case.  This little boy was transfused on the same day as my son last year.  His DNA suggested that he was major but he (a 5 year old at the time) was only transfused 3 or 4 times.  Since his few transfusions last year he has maintained his hemoglobin - and he has not been in for a transfusion for over a year.  Surprisingly, he had one transfusion in his first year - and then a 2 or 3 when he was 5 - and none since.  I was really confused by this. 

I didn't understand how this was possible, but maybe Lauryn's case is similar to this boys.

Yes it is true some children can maintain their hemoglobin to the age of 5 or 6 even they are diagnosed with Thal Major. We have seen two such cases in Hospital for sick children. Eventually they are on regular transfusion after 5 years. No explanation was given by doctors (I think they don't know for sure).

Thanks

Hi Christine,

I don't want to raise false hopes, but Lauryn is doing well so far. What I am saying is her gene mutations are a different type of mutation than many thal gene mutations and as is the same with those mutations, her condition will be determined by the extent of the mutation. However, because it is an mRNA problem, Lauryn may be able to take advantage of research into replacing the mRNA, and not be dependent on something like BMT or gene therapy for a cure. This may be possible using her own blood, as is the case with retrodiferrentiation.

SO, SHE IS STILL A MAJOR?

When our child was diagnosed with Major, we were in the state of denial for long time but then we accepted the fact. We do not lose hope and remain together for the benefit of child.

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.

Hi Andy

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

Manal

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 

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.

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

Thanks a lot

Manal