A member asked:

Could you tell me what gene is affected by sickle cell anemia?

5 doctors weighed in across 2 answers

The beta globin gene: Hemoglobin is a complicated molecule in red blood cells that carries oxygen from the lungs to the rest of the body. It contains 4 protein chains, 2 Alpha chains and 2 beta chains. Sickle cell disease is caused by specific mutation in the beta globin gene. We each have two beta globin genes. If one has the s mutation you have sickle trait; if both have the s mutation you have sickle cell anemia.

Answered 9/21/2019

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Dr. Craig MacArthur answered

Specializes in Pediatric Hematology and Oncology

Beta globin : The beta globin gene is on chromosome 11. The gene mutation is a Adenosine to thymine base substitution in the gene that changes the normal glutamic acid in position 6 of beta globin protein with valine.

Answered 11/27/2017

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