Discussion Forums > Thalassemia Major

Again!

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jzd24:
Christine,
     So glad to hear that Lauryn's hemoglobin has gone up. She may have major, but she is holding her own on the hemoglobin front! She's a tough cookie. I don't know why they don't run alpha testing when they test for beta. Just get it all done so there's no doubt. Anyway, it sounds like Lauryn has a rare kind of mutation. I wish you and her the best in the upcoming days. Let's hope she keeps that hempglobin up for as long as possible. Jean 

Christine Mary:
hi andy!!!

im so sorry. i am confused. can you explain what you mean is lauryn one of the "lucky thals"?. i dont understand what her mutations are or how they differ from regular thals??

Christine Mary:
is this good?>  :dunno
should i be happy?

 why didnt her doctors tell me this?

 what is thal A trait?

Andy Battaglia:
Hi Christine,

Alpha thalassemia is the other thal that is most commonly found in east Asians. In some cases, when it co-exists with beta thal it can act as a modifier, lessening the severity of the thal. From Lauryn's genetic background, it is highly unlikely that she is also an alpha thal carrier.

With the type of mutation Lauryn has, her body would be able to produce normal hemoglobin if the mRNA was not aberrant. The subject of this research that I mentioned is to correct this mRNA defect. Because this defect is also responsible for many other genetic problems, there is much research being done on how to correct the lack of normal mRNA. If this research succeeds it will have many applications including providing a cure for this type of beta thal. It would be of no use to the many other thals whose thal is not mRNA related. There are many reasons that the beta gene does not produce its part of the hemoglobin and all these varying mutations and deletions are lumped under the category of beta thal even though there are substantial differences in the way the mutations affect the production of hemoglobin.

The doctors may not be aware of this research as it is only in the research stage and not available as a treatment. It is however, a very promising area of research and may eventually provide a cure for this type of beta thal. It is reason for cautious optimism and developments in this area should be followed.

Christine Mary:
so what your saying andy... is that her thal major is a lesser form?

this kid has had only 1 transfusion in 9 months. she is showing no signs of low hemoglobin as far as im concerned. she eats and drinks like a horse!!!

she is also very happy.

wouldnt you agree that intermedia is based on the frequency and need of tx's?

could she be classified as intermedia,even though her dna proves major?

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