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Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal flexible, round shape[1]. Point mutation, a change in only one nucleotide,[1] in the HBB gene causes sickle cell anemia. The HBB gene encodes information to make the beta-globin subunit of hemoglobin, which is the protein molecule of red blood cells that carries oxygen throughout the body. Sickle cell anemia occurs when the HBB gene mutation causes both beta-globin subunits of hemoglobin to change into hemoglobin S (HbS)
[1] http://genetics.thetech.org/about-genetics/mutations-and-disease
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- ^ "What Is Sickle Cell Disease? - NHLBI, NIH". www.nhlbi.nih.gov. Retrieved 2016-11-10.