Explain how the mutation would cause the clinical manifestat

Explain how the mutation would cause the clinical manifestations of sickle cell anemia?

Solution

Sickle cell anemia is a form of anemia which is inherited genetically, the condition is characterized by the abnormality of the red blood cells to carry oxygen. The condition causes the red blood cells to be sickle shaped. This is caused due to the mutation in the gene known as hemoglobin beta (HBB) present on chromosome 11. The mutation results in the production of abnormal hemoglobin in the RBC. This mutation causes a change in the amino acid sequence of hemoglobin from glutamic acid to valine. This produces HbS instead of HbA. This results in the sickle shape of the RBC molecule instead of doughnut shape. This causes blockages in the blood vessels as the sickle shaped RBC gets stuck.

The clinical manifestations that arise because of this are: