A member asked:

What are the types of gene defects in sickle cell anemia?

A doctor has provided 1 answer

Several: There are several genetic defects that lead to sickle cell anemia. They all lead to a change in the 6th Amino Acid in the beta-globin chain in which valine is substituted for glutamic acid. At least 5 different dna mutations have been identified that all lead to the same Amino Acid substitution, and thus, sickle cell anemia.

Answered 9/28/2016

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