Sickle Cell Disease/Anemia
The human body is susceptible to many diseases. According to the American Heritage Journal of Medicine, a disease is defined as an abnormal condition of either an animal or plant that causes dysfunction or discomfort. This study seeks to address the sickle cell disease, the parts of the body it affects, its different forms, is mortality rate as well as the ethnic populations and age groups mostly susceptible to the disease. It will also address its signs and symptoms, how it is diagnosed and the most common preventive measures.
Disease overview
According to Hassell (2016), Sickle cell disease is a hereditary type of anemia. This condition occurs when red blood cells become crescent-shaped as a result of genetic defect. The crescent-shaped RBCs tend to break down rapidly meaning that oxygen does not get to the intended body organs, causing anemia. The crescent-shaped RBC’s are unable to carry sufficient oxygen in the human body, and they can sometimes get stuck in the blood vessels bringing forth a lot of pain to a patient. Research shows that this disease mainly affects people of Caribbean, African, and Eastern Mediterranean, Middle Eastern and Asian origin. According to Anglin (2015), this disease resulted into more than 176,000 deaths in the year 2013. The fact that this disease is hereditary means that a person cannot simply catch it as a cold or flu. Research shows that “children are born with this disease when they inherit two sickle hemoglobin genes, one from each parent (Yawn et al, 2014).”
There are different forms of the sickle cell disease. Bender & Seibel (2014) argue that the type of the sickle cell that a child develops is determined by the type of the gene acquired from both parent. When a child inherits hemoglobin SS trait from both parents, he/she has sickle cell anemia. This is the most common and serious form of sickle cell disease. However, when a person inherits the hemoglobin S trait and then another form of abnormal gene from a different gene may end up of having a different type of the sickle cell disease such us as hemoglobin S beta thalassemia or hemoglobin SC. Other forms of the Sickle Cell Disease include Hemoglobin SD and Hemoglobin SE. According to Yawn et al (2014), there are about 2,000 babies who are born with this disease every year in the U.S. People who inherit just one sickle hemoglobin gene from one parent have the sickle cell trait (hemoglobin S) meaning that they are carriers of the disease. Research shows that there are about 2 million people who have the sickle cell trait in the United States. According to Gravitz& Pincock (2014), 1 in every 12 African American either has the disease, or is a carrier of the hemoglobin S trait.
Signs and Symptoms
There are several signs and symptoms of this disease, and sometimes they may be experienced from early childhood. Sometimes these symptoms appear after about 5-6 months after birth. However, Anglin (2015) says that most children with this disease have few symptoms and most of the time lead a normal life. The most common symptoms of anemia include: fatigue dues to the first rupturing of the RBC’s, episodes of pain, vision problems, increased risk or infections, delayed growth and hand-foot syndrome (swollen hands and feet in babies). Sickle-cell anemia patients experience severe episodes of pain that can last even up to seven days. According to Bolke & Scherer (2012), there are also other minor symptoms of the sickle cell disease which include: acute chest syndrome, splenic sequestration, aplastic crisis, pulmonary hypertension and avascular necrosis of humeral or femoral head.
Diagnosis
Sickle cell disease is diagnosed through screening mostly during pregnancy (from 10 weeks) or shortly after birth (Bender 7 Seibel, 2014). A clinical picture of vaso-occulusive crises and hemolytic anemia can help a clinician determine if a fetus or a new born baby has the disease or not. Physicians examine electrophoresis to confirm the presence of sickle cell disease is there is presence of homozygous Hemoglobin S trait or other documented hemoglobinopathies. In the U.S and the U.K, there is mandatory screening for all newborns to determine if they have the Hemoglobin S trait. Blood tests can also help determine if one is a carrier and if he/she at risk of bearing children with the disease.
Management
According to Yawn et al (2014), bone marrow transplant is the only known potential cure for this disease. However, it is very difficult to find a donor, and the procedure involved is also very risky and could even lead to the death of a donor. As a result, treatment goals for this disease are aimed at controlling its symptoms and managing any potential complications. Treatment strategies are meant to manage chronic pain syndromes, vaso-occlusive crisis, chronic holytic anemia as well as the management of complications and the various organ damage syndromes that are associated with the disease. Furthermore, treatment strategies for this disease are also aimed towards prevention as stroke, detecting and treating pulmonary hypertension as well as preventing and treating any other infections.
Medication
Children with this disease can start taking antibiotics (mainly penicillin) from as early as the age of 2 months and continue with the medication until they are above 5yrs (Hassel, 2016). Antibiotics help in preventing opportunistic infections like pneumonia which is a life-threatening disease to toddlers. Adults with the sickle cell disease can also take antibiotics to prevent other opportunistic infections. There is also pain relieving medication which comes in handy during a sickle crisis. Physicians can recommend particular over-the-counter pain relieving medication as well as heat application to the affected areas as means of controlling pain during crises. There is also Hydroxyurea which is drug known to reduce the frequency of sickle crises as well as the need for blood transfusions when taken on daily basis.
Prevention
It is advisable to have a blood test to determine if one is a carrier of the sickle cell trait or not. If one is a carrier, one should visit a genetic counselor before conceiving a child for advice on the risks of having a child with the disease. A genetic counselor can also help a carrier understand different reproductive options, preventive measures as well as any possible treatments.
References
Anglin, C. (2015). Sickle Cell Disease. Journal of Consumer Health on the Internet, 19(2), 122-131.
Bender, M. A., & Seibel, G. D. (2014). Sickle cell disease.
Bölke, E., & Scherer, A. (2012). Sickle cell disease. Canadian Medical Association Journal, 184(3), E201-E201.
Gravitz, L., & Pincock, S. (2014). Sickle-cell disease. Nature, 515(7526), S1-S1.
Hassell, K. L. (2016). Sickle Cell Disease. American Journal of Preventive Medicine, 51(1), S1-S2.
Yawn, B. P., Buchanan, G. R., Afenyi-Annan, A. N., Ballas, S. K., Hassell, K. L., James, A. H., … & Tanabe, P. J. (2014). Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. Jama, 312(10), 1033-1048.
