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Old 03-08-2016
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Default genetics of beta thal


i am confused reading this and i had one question in NBME 17 that was very difficult as well.

my present understanding is

beta thal vs alpha thal is quant vs qual ..alpha disease being one of deletions and decrease in amount of alpha chain in a predictable manner while that of beta is a question of sucess in translating the beta genes...defects in promoter region leading to decreased transcription post processing or translation...most common being splicing defects and premature chain termination.
should i know more specific details regarding what is beta zero and beta plus? how to answer questions where they give a piece of genetic code ?

please help


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