Discussion Forums > Working Towards a Cure

hydroxyurea , why not recommended ?

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Dharmesh:
You can come to India for this purpose....If its possible for u

whiterose:

--- Quote from: Andy Battaglia on July 12, 2014, 08:40:47 PM ---Codon 41-42 (-TTCT); TTCTTT) is the specific beta mutation.



--- End quote ---

Andy,
this codon 41-42 mutation is mild or severe mutation ?
Isha's mother has codon 41-42 & father's mutation was not detected . Transfusion was started at the age of 2 (thalassemia was diagnosed at 1 yr & 6 months of age) , and she is 26 now(regular 12-15 days transfusion now). I wonder whether isha is thal intermedia/major ?
Her Hb stayed lowest at 6.5-7 before 1st transfusion.

Andy Battaglia:
Codon 41-42 is a beat zero mutation. When combined with another codon 41-42, it is transfusion dependent thal major. When combined with other mutations, the outcome is not predictable, and can be anywhere from intermedia to transfusing major status.

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