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Sickle Cell Anemia by Tiffany Hawkins

By at January 12, 2012 | 7:22 am | Print

The National Institutes of Health explains that Sickle Cell Anemia is a genetic disease where the sickle hemoglobin gene is passed down from both parents to the child. According to the Mayo Clinic, the abnormal gene that is passed down from each parent creates a “condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your body”. The National Institute of Health (2011) further explains how healthy red blood cells essentially are shaped like a disk and a donut without the hole in the center, which allows them to easily flow and navigate their way through your blood vessels. However, when a person is diagnosed with Sickle Cell Anemia, their red blood cells are not shaped like a disk-shaped donut. Instead, the National Institutes of Health (2011) distinguishes the red blood cells as being crescent shaped, stiff and sticky, which causes these red blood cells to block the flow of blood in blood vessels, thus causing pain, infections, and serious organ failure. The crescent, sticky shape of sickled cells is due to the fact that they contain abnormal hemoglobin called hemoglobin S, which impairs the ability of the red blood cell to effectively carry and distribute oxygen throughout the body (National Institutes of Health 2011). In addition to red blood cells being sickled shaped, WebMD (2011) explains that the red blood cells of individuals with Sickle Cell anemia only last about 20 days in comparison to the 120 days that a normal red blood cell lasts. This contributes to the tired and weak feeling associated with the anemia aspect of Sickle Cell Anemia, thus making the person appear weak and washed out according to WebMD (2011).

There are various cases where the child only inherits one abnormal gene from one parent and a normal gene from the other parent. The National Institutes of Health (2011) explains that in circumstances like this, the person has what is called the Sickle Cell trait. Individuals with the trait “usually have few, if any, symptoms and lead normal lives. However, some people may have medical complications (The National Institutes of Health 2011)”. Although symptoms are not as prevalent in people with only one abnormal gene, The National Institutes of Health clarify that they still have the ability to pass the gene on to their children. This can put their children at risk for inheriting Sickle Cell Anemia or the trait as well.

Sickle Cell Anemia is a disease that targets a specific population. The National Institutes of Health (2011) state that individuals who have descendents from Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries (such as Turkey, Greece, and Italy), India, and Saudi Arabia are at risk from inheriting the gene. However, there is one race in particular that is affected the most by this disease. That race is African Americans. The National Institutes of Health reveals that 1 in 500 African Americans are affected by Sickle Cell Anemia while 1 in 12 African Americans have the trait.

Although there is no cure developed for this disease, Mayo Clinic (2011) states there are various treatments that help relieve pain and other problems caused by Sickle Cell Anemia. The various treatments include Blood Transfusions, Oral Antibiotics, Hydroxyurea, and pain killing drugs administered orally and intravenously.

Blood Transfusions are described by the Human Genome Project website (2005) as a method designed to increase the amount of normal red blood cells that circulate the human body in an effort to treat spleen enlargement in children and prevent the possibility of stokes. This method essentially corrects the occurrence of anemia within the body. The Human Genome Project goes on to explain how some doctors may opt to administer oral penicillin as an antibiotic design to prevent pneumococcal infection within the patient. According to the Human Genome Project, this oral antibiotic is directed to be taken twice a day as early as 2 months old until the child is around 5 years of age, although they are consistently working on various strains of this antibiotic due to the fact that strains of resistance continuously emerge and disrupt the effectiveness of the antibiotic. In addition to these two treatments, Hydroxyurea is introduced as one of the “first effective drug treatment for adults with severe sickle cell anemia” (The Human Genome Project 2005). Hydroxyurea effectively reduces the “frequency of painful crisis and acute chest syndrome (The Human Genome Project 2005)” and they are less likely to need blood transfusions (The Human Genome Project 2005).

The treatments describe above can be highly effective, but they can create problems for the patient as well if they are not monitored appropriately. For instance, the Sickle Cell Disease Association of America explains how blood transfusions have the ability to cause an accumulation of iron in the body because red blood cells contain iron and the body does not have a natural way of getting rid of the iron. This causes toxic levels in the body, which can lead to organ damage as it gathers in the heart, lungs, liver, and other vital organs as mentioned by the Sickle Cell Disease Association of America (2011).

A patient with Sickle Cell Anemia may also be eligible for a bone marrow transplant as a form of treatment. According to the Mayo Clinic, this surgery requires the replacement of damaged bone marrow cells in patients with Sickle Cell Anemia with new and healthy bone marrow cells, thus promoting the production of healthier red blood cells that circulate the body. Although this method may seem ideal, the Mayo Clinic (2011) states that this procedure is challenging because finding a donor is difficult and the procedure itself involves serious risks including death.

Although there are various designated treatments, medications and procedures available to individuals with Sickle Cell anemia, there are also preventative measures that individuals can do to either prevent the severity of Sickle Cell Anemia and the crisis of pain that the sticky sickled-shaped red blood cell cause. Early diagnosis is one method. The Sickle Cell Disease Association of America recommends testing for the disease in the newborn period so that preventative measures can be administered as soon as possible. The Mayo Clinic (2011) advises that individuals with Sickle Cell Anemia can also take daily folic acid supplement, eat a healthier diet, drink plenty of water, avoid extreme hot or cold temperatures, reduce stress, and exercise regularly. Over the counter medications can be helpful as well in pain management according to the Mayo Clinic (2011), however they do advise that individuals use caution when administering these medications to themselves.

In conclusion, Sickle Cell Anemia is a hereditary disease that is passed down through generations genetically. The presence of the hemoglobin gene in the red blood cells cause the cells to transform into a sickled shaped. This sickle-shaped red blood cell is sticky and lacks the ability to effectively carry oxygen throughout the body as it forms clots in various blood vessels, thus inflicting moderate to severe pain to individuals with Sickle Cell Anemia and resulting in a crisis. There is no cure for this disease, but there are daily preventative measures an individual can engage in to improve their quality of life. In addition to this, there are also, various treatments, medications and procedures available to the patients that range in the risk involved.

References:

Mayo Clinic Staff. (August 2, 2011). Mayo Clinic: Sickle Cell Anemia. Retrieved from http://www.mayoclinic.com/health/sickle-cell-anemia/DS00324

(February 1, 2011). National Institutes of Health: Explore Sickle Cell Anemia. Retrieved from http://www.nhlbi.nih.gov/health/health-topics/topics/sca/

(2011). WebMD: Sickle Cell Disease. Retrieved from http://www.webmd.com/a-to-z-guides/sickle-cell-disease-topic-overview

(May 5, 2005). The Human Genome Project: Genetic Disease Profile: Sickle Cell Anemia. Retrieved from http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml
http://sicklecelldisease.org/index.cfm?page=about-scd

 

 

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