Sickle cell anemia is an inherited condition. People with sickle cell anemia inherit two copies of the sickle cell gene, one from each parent. The sickle cell gene makes abnormal hemoglobin called Hemoglobin-S.
The sickle cell gene is a trait due to a change in ONE nucleotide in the DNA sequence that leads to a change in ONE amino acid that changes how the hemoglobin protein folds. This change in the structure of the hemoglobin protein leads to a change in the shape of the red blood cell to a sickle shape.
Sickle-cell anemia is caused by a point mutation in the B-globin chain of hemoglobin, replacing the amino acid glutamic acid with the less polar amino acid valine at the sixth position of the B chain. …show more content…
This changes the amino acid formed from glutamic acid to valine. Glutamic acid is hydrophilic while valine is hydrophobic causing the haemoglobin to collapse in on itself occasionally and this plays an important part in sickle cell anaemia.
Valine makes the haemoglobin less soluble under decreasing oxygen tensions.
Sickle cell hemoglobin exists as isolated units in the red blood cells when they have oxygen bound. However, when they release it in the peripheral tissues, due to valine, the molecules tend to stick together and form a polymer (long inflexible chain) which distorts the cell and causes it to bend out of shape. While most distorted cells are simply shaped irregularly, some of them have a crescent (or sickle)-like shape which gives it the disorder the name sickle cell anemia. When the red blood cells pick up oxygen again the chain breaks and the haemoglobin molecules are isolated