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• Hemoglobin consists of four protein subunits: two subunits called alpha-globin and two subunits called beta-globin
• mutation in a gene on chromosome 11 that codes for the beta subunit of the hemoglobin protein
• This cause for the hemoglobin molecules to not form properly
• HBB gene mutation produces an abnormal version of beta-globin known as hemoglobin S
• Hemoglobin S is what twists red blood cells into a sickle
• hemoglobin S replaces both beta-globin subunits in hemoglobin
• mutation changes a single protein building block or the amino acid in the beta-globin
A protein called hemoglobin of the red blood cell is affected, and this is to transport oxygen from the lungs to the rest of the body. The sickle cell delivers less oxygen to the body’s tissue, and can get stuck by clumping together and not letting enough oxygen to the body
Malaria
• Infection can cause sickling and then
can be removed from the system
• Make more oxygen that are toxic to
the parasite
• Infection causes cell membrane to
change which then it can be destoyed
Autosomal recessive pattern which is when the parents pass down both copies of the gene, and in each cell have mutations.