Sickle cell anemia is the result of a point mutation, a change in just one nucleotide in the gene for hemoglobin. This mutation causes the hemoglobin in red blood cells to distort to a sickle shape when deoxygenated. The sickle-shaped blood cells clog in the capillaries, cutting off circulation.
Also question is, why is the sickle cell mutation only in certain parts of the world?
Heterozygote sickle cell carriers are much more resistant to malaria than those with just normal hemoglobin. That the frequency of the sickle cell allele is higher in African populations than in African Americans is due to both this selection and the genetic mixing between whites and blacks in the United States.
What gene is mutated in sickle cell anemia?
Mutations in the HBB gene cause sickle cell disease. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. The HBB gene provides instructions for making beta-globin.
Which gene is mutated in individuals with sickle cell anemia?
Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels.