Understanding Sickle Cell Anemia

Understanding Sickle Cell Anemia

Sickle cell anemia is not as new as scientific documentation indicates. It was first documented in Africa in the 1870s and resulted in many deaths prior to the research that made management of it more effective. While there is no cure for the disease, there are interventions and treatment available that helps in minimizing and alleviating the symptoms of the disease. The following paper provides an overview of sickle cell anemia and current research on it to broaden the general understanding of this disease.

I. History

Hemoglobinopathy is the study of genetic abnormalities that involves the globin chains of hemoglobin, the red component in the blood that carries oxygen. The most common of these include the sickle cell trait. The first documented case of sickle cell disease was that of dental student Walter Clement Noel of Chicago in 1904 but symptoms associated with the disease is mentioned in African writings, referring the condition as chwecheechwe, abututuo, nuidudui and nwiiwii. When Noel was admitted, an intern named Ernest Irons noticed that Noel's blood presented unusual features, that of many elongated cells. The attending physician, James Herrick was informed and they proceeded to document the progression of the disease over two-and-a-half years. It took Noel nine years to succumb, presumably as a consequence of his condition.

A researcher named Haln first coined the term "sickle cell" but it was V.E. Emmel who documented that the sickle cell trait could be present in healthy individuals without developing anemia.

By the 1940s, it was established that the sickle cell was a result of abnormal hemoglobin but not the mechanism that led to the abnormality. In the 1950s, American scientist Vernon Ingram isolated the culprit, an amino acid called valine, which took the place of glutamic in the beta globin chain of hemoglobin. It may sound a trifling change, but it has had a profound impact on those who have it. ("Genetic basis of hemoglobinopathies- the history of sickle cell")

II. Causes

Sickle cell is a genetic disorder that turns red blood cells, which should be round and flexible into stiff and sickle-shaped cells, which is why it is called sickle cell. This is due to mutations in the beta-hemoglobin (HBB) gene. (Roberts)

Because they are inflexible, it is unable to travel smoothly in the blood vessels, bunching up and slowing the flow, preventing the efficient delivery of oxygen. This results in pain, organ damage and infection. The anemia results from the early death of these cells with a life span of 20 days as opposed