Genetic Analysis of Sickle Cell Anemia Essay

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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.

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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….....

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