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

Dr. Steven Ginsberg
Internal Medicine - Hematology & Oncology
In brief: 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.

In brief: 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.
Dr. Steven Ginsberg
Dr. Steven Ginsberg
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