Genetic Analysis of Sickle Cell Anemia

As shown in Part 1 of the Case Report, sickle cell anemia is one of the highly prevalent diseases in today’s society. This disease is a disorder of the blood brought by the inheritance of the gene that changes the shape of the sickle cell. The case provides significant insights regarding this blood disorder through examining the various issues relating to sickle cell anemia. One of the most crucial aspects towards understanding sickle cell anemia is examination of its genetic information, causes, and gene mutation. Part 2 of the Case Report examines whether chromosomal analysis was indicated, causes of the disorder, its origin with respect to gene inheritance, and gene mutation.

Chromosomal Analysis
Even though the case provides significant insights regarding sickle cell anemia, chromosomal analysis was not indicated. According to Quest Diagnostics (2013), chromosomal analysis is the microscopic evaluation of chromosomes in dividing cells. The analysis is usually carried out to help in identification of changes in chromosomal structure and number. Through this process, chromosomal analysis helps to detect any structural changes associated with a particular disease or condition. In this regard, the case does not indicate chromosomal analysis though it covers various aspects of the disease. Actually, the author focused on providing an overview of the causes, diagnosis, and treatment of the disorder but did not indicate whether chromosomal analysis was carried out.
Causes of the Disorder
One of the major issues addressed in the report is the causes of sickle cell anemia, which is considered as one of the most prevalent disorders in the modern society. As indicated by Lervolino, Baldin, Picado, Calil, Viel & Campos (2011), sickle cell anemia is brought by an abnormal gene, which causes a disorder to the hemoglobin. In this case, sickle cell anemia is a genetic disease brought by mutated hemoglobin and hereditary in nature. The inheritance of this disorder occurs through an autosomal recessive gene with both parents. Parents with such genes are considered as asymptomatic carriers of one affected gene known as heterozygous. The defective gene is transmitted to the child who becomes homozygous (Lervolino, Baldin, Picado, Calil, Viel, & Campos, 2011). As a result, clinical manifestations of this condition are observed only in homozygous individuals since they inherit the detective gene from their parents.
As an inherited form of anemia, sickle cell anemia is primarily a condition characterized by the lack of adequate healthy red blood cells to carry sufficient oxygen throughout an individual’s body (Mayo Staff Clinic, 2016). In this case, the red blood cells of a patient suffering from sickle cell anemia become rigid and sticky. The condition also affects the structure of red blood cells by shaping them like crescent moons or sickles. These defective red blood cells can get stuck in small blood vessels and eventually block the flow of oxygen or blood to other parts of the body (Mayo Staff Clinic, 2016).
Origin of Sickle Cell Anemia in terms of Gene Inheritance
The origin of sickle cell anemia can be attributable to single gene inheritance since the most common genotype of the disorder is homozygous sickle cell disease (Serjeant, 2013). As shown in the case, sickle cell anemia is brought by the inheritance of a single defective gene that alters the shape/structure of red blood cells and contributes to the development of this blood disorder. However, the single gene inheritance of sickle cell anemia occurs either homozygously or as a double heterozygote with another relating gene (Serjeant, 2013). In this case, a child can inherit the defective sickle cell gene from one parent and a gene for normal hemoglobin from the other parent. Alternatively, the child can inherit heterozygous gene from both parents who are asymptomatic carriers of this defective gene. The inheritance of defective genes contributes to sickle cell trait through which sickle cell anemia develops.
Given that sickle cell anemia is an inherited form of anemia, there are essential considerations for practice and patient education with respect the single gene inheritance. As documented in the case, one of the considerations for practice is undergoing diagnosis at earlier stages of the condition. This is an important consideration for practice because the treatment of the disorder is relatively difficult because it’s a cancerous condition. The second consideration for practice is enhancing the success of the bone marrow transplant during treatment of the disease through early diagnosis of the condition. With regards to patient education, healthcare providers and caregivers should focus on creating awareness of the signs and symptoms of sickle cell anemia and encouraging early diagnosis. Additionally, patients should be educated on taking physician-recommended medication and ensuring drug compliance to help improve their outcomes (Mayo Clinic Staff, 2016).
Gene Mutation of Sickle Cell Anemia
As evident in the case, sickle cell anemia is a genetic disease that is characterized by severe symptoms and relatively difficult to diagnose and treat. This genetic disease is inherited in an autosomal recessive pattern, which implies that two copies of the gene in each cell have mutations (Genetics Home Reference, 2017). Each of the parents of a person with an autosomal recessive condition carry a copy of the mutated gene, which is then passed to the child through an autosomal recessive gene. However, parents with this gene do not usually show signs and symptoms of sickle cell anemia. This is primarily because people with one copy of the sickle cell gene do not have the condition but are more likely to pass the gene on to their child, which contributes to a sickle cell trait in the child.
Hemoglobin comprises four protein subunits that are further divided into two subunits i.e. alpha-globin and beta-globin. Hemoglobin protein subunit, beta-globin (HBB), provides instructions for the development of beta-globin, which results in different mutations of the HBB. Mutations in this gene i.e. HBB cause sickle cell anemia when they generate an abnormal version of beta-globin i.e. hemoglobin S (HbS). On the other hand, the other mutations generate extra abnormal versions of beta-globin like hemoglobin C (HbC) and hemoglobin E (HbE) (Genetics Home Reference, 2017). Sickle cell anemia is developed when these HBB gene mutations result in the replacement of one beta-globin subunit with hemoglobin S. The abnormal versions of beta-globin produced in HBB gene mutations can damage red blood cells into a sickle cell shape, which results in the development of sickle cell anemia.
Case Report – Part 3
How Genetics Can Influence Policy Issues
One of the major insights obtained through this case report is the role genetics play in development of certain diseases/disorders, particularly sickle cell anemia. In light of its role in the development of disorders, genetics can significantly influence policy issues in the healthcare sector. In the modern healthcare environment, genetics has been identified as an important aspect in healthcare practice since many diseases have a genetic component. This genetic component combined with environmental factors to contribute towards the development of diseases. Consequently, genetics has received increased attention in policy issues in the healthcare field because of its role in disease development.
Therefore, genetics can influence policy issues in the healthcare field by providing a foundation for development of policies to govern the diagnosis and treatment of diseases. Professionals in the today’s healthcare sector including nurses are increasingly incorporating genetics and genomic information in their practice (Calzone, Cashion, Feetham, Jenkins, Prows, Williams & Wung, 2010). The increased incorporation of genetics and genomic information in healthcare practice implies that genetics should be considered when developing healthcare policy. Given the increased incorporation of genetics in healthcare practice, genetics can influence policy issues through shaping the decisions of policymakers regarding policies that govern healthcare practice. Policymakers are faced with the need to establish regulations that promote the increased consideration and utilization of genetics and genomic information in improving the effectiveness of healthcare practice. A suitable policy framework that promotes the use of genetics and genomic information can transform healthcare practice and help in promoting the health and wellbeing of various patient populations.
Nutritional Influences for the Cause of Sickle Cell Anemia
While sickle cell anemia is primarily a genetic disease, there are some nutritional elements associated with its cause. The nutritional influences for the cause of the disease are attributable to the difficulties in finding a universally available cure for sickle cell anemia. In essence, once an individual inherits defective genes that cause the disease, the development of the condition is influenced by various factors including nutritional issues. Hyacinth, Gee & Hibbert (2010) contend that nutritional issues of sickle cell anemia have received significant interest in the recent past. Through this process, researchers have conducted various studies that examine nutritional alternatives as a means of lessening the disease’s morbidity and enhancing the quality of life among those suffering from the condition. The search for these nutritional alternatives is attributable to the role nutritional influences play in the development of sickle cell anemia once an individual has inherited defective genes from his/her parents.
The nutritional influences for the cause of this disease are largely linked to protein or energy deficiency brought by the defective gene. As previously indicated, mutations of HBB gene generates abnormal versions of hemoglobin S, which replaces one beta-globin protein subunit. This in turn affects the levels of protein or energy and play a significant role in the development of sickle cell anemia. The reduced or affected levels of protein in the hemoglobin implies that an individual with this condition faces a relative shortage of nutrients that are necessary for normal growth and development. While the individual may have adequate dietary intakes, the effect of HBB gene mutation on protein levels in the hemoglobin are still evident as act as causes of the disease. Therefore, nutritional influences for the cause of sickle cell anemia are primarily the impact of HBB gene mutation on the level of protein in hemoglobin.
Nutritional Assessment and Counseling
Since there are nutritional influences for the cause of sickle cell anemia, nutritional assessment and counseling plays a crucial role in relation to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring the effectiveness of treatment. In relation to health and prevention, nutritional assessment and counseling is centered on encouraging adequate dietary intakes to help address the relative shortage of essential nutrients for growth and development. The assessment and counseling process focuses on health and prevention by promoting increased dietary intake of foods that boost protein levels given that HBB gene mutation generates abnormal versions of hemoglobin that affect the levels of protein. The focus on increased dietary intake is to help prevent or reduce long-term complications associated with the defective gene that causes this disease (Hyacinth, Gee & Hibbert, 2010).
With regards to screening, diagnostics, and prognostics, nutritional assessment and counseling focus on identification of micro and macronutrient deficiencies that affect the quality of life of an individual suffering from this condition. In this regard, the assessment and counseling process helps in determining the extent with which the condition has affected the essential nutrients for growth and development. Once micro and macronutrient deficiencies have been identified, the next steps in nutritional assessment and counseling are selection of treatment and monitoring the effectiveness of the treatment (Hyacinth, Gee & Hibbert, 2010). In this case, the healthcare provider identifies the most suitable nutrition and dietary supplements for the patient depending on the level of micro and macronutrient deficiencies. The effectiveness of the supplements is then evaluated in terms of whether they boost these essential nutrients and enhance the patient’s health and quality of life. Additionally, nutritional assessment and counseling also entails evaluation of the emotional and social impact of the treatment.
Prevalence Rates, Testing, Treatment, and Prognosis in Relation to Nutrition
Sickle cell anemia is generally one of the highly prevalent diseases in today’s society whose diagnosis is relatively difficult despite the existence of various diagnosis trends for the disease. From a nutritional perspective, the prevalence rates of the disease remain relatively high despite the recognition of nutritional influences that contribute to the development of the disease once an individual has inherited defective genes from his/her parents. However, the testing and treatment of this condition in relation to nutrition has been characterized by the increased development of nutritional alternatives for diagnosis and treatment. Nutritional alternatives for diagnosis focus on determining the level of micro and macronutrient deficiencies while treatment alternatives focus on addressing these deficiencies, lessening morbidity, and enhancing the quality of life of individuals suffering from sickle cell anemia. As nutritional alternatives continue to be the subject to numerous studies and clinical experiments, nutrition is expected to help in lessening prevalence rates and improving diagnosis and treatment of sickle cell anemia in the foreseeable future.
References
Calzone, K.A., Cashion, A., Feetham, S., Jenkins, J., Prows, C.A., Williams, J.K. & Wung, S. (2010, January). Nurses Transforming Health Care Using Genetics and Genomics. Nursing Outlook, 58(1), 26-35.
Genetics Home Reference. (2017, November 7). Sickle Cell Disease. Retrieved from U.S. National Library of Medicine website: https://ghr.nlm.nih.gov/condition/sickle-cell-disease#genes
Hyacinth, H.I., Gee, B.E. & Hibbert, J.M. (2010, October 21). The Role of Nutrition in Sickle Cell Disease. Nutrition and Metabolic Insights, 3, 57-67.
Lervolino, L.G., Baldin, P.E.A., Picado, S.M., Calil, K.B., Viel, A.A. & Campos, L.A.F. (2011). Prevalence of Sickle Cell Disease and Sickle Cell Trait in National Neonatal Screening Studies. Revista Brasileira de Hematologia e Hemoterapia, 33(1), 49-54.
Mayo Clinic Staff. (2016, December 29). Sickle Cell Anemia. Retrieved November 10, 2017, from https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
Quest Diagnostics. (2013, June). Chromosome Analysis. Retrieved November 10, 2017, from http://www.questdiagnostics.com/testcenter/testguide.action?dc=TH_ChromAnal
Serjeant, G.R. (2013, October). The Natural History of Sickle Cell Disease. Cold Spring Harbor Perspectives in Medicine, 3(10). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784812/