Thalassemia Patients and Friends
Discussion Forums => Thalassemia Major => Topic started by: Christine Mary on September 02, 2006, 04:06:51 PM
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Hey Guys <3
thanks so much for responding! i truly mean this when i say how much your optimism means to me and my family. i had tears in my eyes reading your posts and for a moment, i had not a care in the world! this site is truly amazing and until now i didnt think i had anyone to vent to!
im in the u.s. (arizona to be exact). i have a few more questions if that is ok??
1) is the newborn screening test acurate enuff to detect thal major?
2) is there a "lesser" severity of the major? or does everyone need the same treatment?
its so confusing b/c the day i came home from the hospital,(friday night actually) i get a phone call from lauryns pediatrician (5:47 pm)!!! saying she was thal major! IT WAS THE WEEKEND!! what did she expect me to do? she said she made me an appointment to see a hemotologist that monday to "confirm'' the results. I thought you either had it or u didnt. whats with this confirmation???
so we see the hemo. and he says he needs his own testing done to make sure there wasnt a mistake made. he said hes seen it before where the tests for this are mishandled and there could be a possilbilty she doesnt have it. my husband and i banked her cord blood and told the dr we' have viacord destroy it. he said no no no dont do that until we are positive. MY PROBLEM WITH THIS WHOLE THING IS DOES SHE HAVE IT OR NOT? what are they looking for? why did they call me unless they were positive she has it???we now have to wait until this wed. to get the final results. these past 10 days have been the worst of my life so far. the reason they suspect her having it is b/c she had 100% fetal hemoglobin before we left the hospital. i thought it was cut and dry. im angry mainly b/c i was told over the phone by my pedi.(who knows nothing about this condition might i add), on a friday night when i couldnt do anything about it.PLUS its still not guarenteed she has thal major.... can anyone shed some light as far as is there a possibilty of the test being read wrong>?can it be intermedia? can it be nothing at all? did the drs do the right thing by calling me and saying she has it when its not positive yet? i am so sorry for ranting, but its so frustrating b/c i feel helpless an im not getting answers!
thanks again,
christine
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Hi Christine,
Believe it or not there are hundreds of mutation of the Hb gene and thus resulting in various combination of Thal. However we mainly classify Thal. into three main groups which are: Major(severe), Inter media(less-severe) and Minor(mild).
I mainly know a little about the genes involved and basically know only a little about the Beta version of the disease. The type of Thal Beta depends on the combination of mutated genes. Thal Major has both of the genes severely mutated or absent. Inter media has one severely mutated/absent gene while the other is mildly mutated but still good enough to produce some good Hb. Minor has either one mutated gene while the second is normal. Furthermore there is Thal Alpha which is a combination of 4 genes and thus has combinations of it's own.
So, I guess you can blame the doctors that they told you something that put you in worry while even they don't know if she is Major or not. But then again, it's the duty of the doctors to tell everything true to the patients (or their parents) about whats going on, but they could have waited a bit till they were sure what she really is and would have avoided giving you the unnecessary tension.
Take care!