Sickle+Cell+Anemia-Genetics

=**Genetics**= Sickle cell anemia is a recessive genetic disorder. For a parent to have a child with sickle cell anemia he/she must be homozygous recessive or heterozygous.

Gene Mutation
HBB is hemoglobin, beta. Sickle cell anemia is the result of the HBB gene mutation. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component of a larger protein called hemoglobin, which is located inside red blood cells.

Sickle cell anemia is caused by a particular mutation in the HBB gene. This mutation results in the production of an abnormal version of beta-globin called hemoglobin S or HbS. The mutation changes a single protein building block in beta-globin. Specifically, the amino acid glutamic acid is replaced with the amino acid valine. Replacing glutamic acid with valine causes the abnormal HbS subunits to stick together and form long, rigid molecules. The rigid HbS molecules bend red blood cells into a sickle shape. The sickle-shaped cells die prematurely, which can lead to a shortage of red blood cells.

Copied from - [] - Mrs. Young



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HBB - hemoplobin, beta - Genetics

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