Sickle Cell Anemia, a hereditary blood disorder that arises from the substitution of a hydrophobic VAL residue for the hydrophilic surface residue GLU in hemoglobin, is a genetic disorder commonly found in African Americans. The heterozygous for m is believed to offer protection against malaria, while the homozygous form leads to the formation of sickle-cell hemoglobin, or HbS. Patients with this disorder are afflicted with hemolytic anemia together with painful, debilitating and sometimes fatal blood flow blockages. These blockages are caused by the irregularly shaped and inflexible erythrocytes characteristic of this disease.

The irregularity in shape and rigidness in structure stems from the fact that HbS becomes stacked within the red cells in filaments that twist into helical rods. The rods then cluster into parallel bundles that distort and elongate the cells, causing t hem to become rigid and assume the characteristic "sickle" shape. This phenomenon is to some extent reversible after the cells become reoxygenated, but repeated sickling ultimately results in irreversible distortion of the red blood cells. The sickle shap ed cells can become clogged in small blood vessels, causing obstruction of microcirculation, which in turn can result in damage to or destruction of various tissues.

The chief symptoms of sickle cell anemia are chronic anemia (due to the destruction of the red blood cells), shortness of breath, fever, and episodic crises that are characterized by severe pain in the abdomen, bones, or muscles. Death can result from anemia, infections, or ultimately from heart or kidney failure. While the many complications of the disease can be treated and pain relieved, there is as of yet no treatment to reverse or prevent the actual sickling process.

Fig 1. Notice the sickle cells elongated shape in comparison to the normal circular red blood cells

Because HbS can be fatal, it is in the best interest of society to come up with some sort of method of controlling the mutation. The genetic source of the mutation is known, but that is only a small portion of the way to a cure. Once a way to control H bS has been discovered, the fatal effects will be eradicated and result in a better life for all people affected by this disease.