It has been said that necessity is the mother of all inventions. In other words, scientists and inventors are driven by the need to solve a particular problem. It all begins with a desperate need that requires a complex and costly scientific pursuit. Consider the Wright Brothers and Thomas Alva Edison. These men invested heavily in scientific pursuits to solve a particular problem. The same thing can be said in the medical field when scientists are determined to find a cure for a disease that has affected a sizeable portion of the human population. In the case of Sickle Cell disease, scientists are constantly seeking for a cure.
Sickle Cell disease (“SCD”) is an important medical issue because it affects approximately 5% of the world’s population (World Health Organization 1). The disease is caused by a gene that is linked to the production of mutant hemoglobin. A common expression of this problem is the Sickle Cell disease. It is characterized by “the shape of the red blood cell from a smooth, donut-shaped into a crescent or half-moon shape, hence the name of the disorder” (Pace 47).
According to experts, it is estimated that over 300,000 babies are born with SCD every year (Centers for Disease Prevention and Control 1). Although this is a high number, it must be pointed out that this is not a communicable disease and can only occur when both parents carry this problematic gene. It is only when a child inherits two of the same trait genes that SCD can be manifested (Centers for Disease Prevention and Control 1). It is, therefore, important to detect the problem at an early age.
SCD can be diagnosed with the use of a simple blood test procedure. The disease is usually discovered at birth when hospitals perform newborn screening tests (Centers for Disease Prevention and Control 1). The symptoms of SCD are evident in the first five years of life. The symptoms include swelling of the hands and feet. The swelling is often accompanied by a high fever. The defective gene that causes the production of irregular-shaped cells is the reason for the disruptive behavior of red blood cells. As a result, the odd-shape cell causes a build-up in the vessels, and the inability of blood to flow freely can result in intense pain.
Also, the life span of the patient is a mere forty-two years old. Therefore, it is an urgent problem that requires a speedy medical resolution. Scientists discovered that unborn and newborn babies produce fetal hemoglobin. They also found out that the production of this type of hemoglobin does not require the use of the mutant gene, and therefore the unborn baby and the infant does not produce sickle-celled red blood cells (Jones 91). Babies only start creating adult hemoglobin between the three and six months of age. Remarkably, it is also the same period when symptoms of SCD begin to appear (Peterson 35). This discovery is the basis for developing treatment procedures to lower the incidence of deformed red blood cells.
At this point, the ability to induce children and adults to produce only fetal hemoglobin has not gone past the experimental stage. But the results in the laboratory have proven to be promising. There is hope that someday scientists will be able to find a way to initiate this procedure without creating risky side effects. At the moment, it is more prudent to develop treatment procedures based on the discovery mentioned above.
Hydroxyurea is a medicine that helps SCD patients to produce more fetal hemoglobin (Peterson 36). This drug helps reduce pain and other complications. However, it has serious side effects. Thus, it has not yet been approved to treat children. Other medical treatments include the use of butyrate and arginine. Butyrate also increases fetal hemoglobin production, while arginine helps produce nitric oxide that helps improve blood flow (Peterson 38).
These medical breakthroughs are important milestones in the fight against SCD. According to one medical report: “Until recently, children with sickle cell anemia usually died young … about 50 percent of people with the disease now live past fifty years old. This is due to advance treatment and management of the disease” (Peterson 36). The scientific community must work hard to develop a natural way to produce fetal hemoglobin without creating adverse effects.
SCD is a debilitating disease that can easily cut down life expectancy to around 40 years old. It is a good thing that scientists continue to pursue solutions to this type of medical problem. The discovery of fetal hemoglobin in unborn babies and infants provided an important clue in solving the riddle of SCD. At this point, there is still no known cure for SCD, but advanced treatment and effective management of the disease enabled patients to live beyond 50 years old. The discovery of effective treatment procedures is proof that the scientific community will answer the call for help if there is a desperate need.
Works Cited
Centers for Disease Prevention and Control. Sickle Cell Disease: Complications and Treatment. Centers for Disease Control and Prevention, 2011. Web.
Jones, Phil. Sickle Cell Disease. New York: Infobase Publishing, 2008. Print.
Pace, Betty. Renaissance of Sickle Cell Disease Research in the Genome Era. New Jersey: World Scientific Publishing, 2007. Print.
Peterson, Judy. Sickle Cell Anemia. New York: Rosen Publishing, 2009. Print.
World Health Organization. Sickle-cell Disease and other Haemoglobin Disorders.
World Health Organization, 2011. Web.