Genetics Case Study Comprehensive Nursing Paper Example

Genetics Case Study Comprehensive Nursing Paper Example

Sickle cell anemia is an inherited condition of the globin chains causing hemolysis and chronic organ damage. The disorder results from HBB gene changes and is inherited through an autosomal recessive pattern. The most common sickle cell disease is linked with lifelong pain crises and blood transfusions. In sickle cell anemia, the red blood cells are shaped like sickles or crescent shapes; they have a shorter lifespan than normal round red blood cells. The sickle-shaped cells also block the blood vessels, especially smaller ones blocking blood flow to organs that can lead to end organ damage. The signs and symptoms begin in early childhood, from anemia to periodic pain episodes and repeated infections. However, individuals with sickle cell trait do not experience sickening symptoms and have a better quality of life than those who have sickle cell disease. This paper will discuss the incidence and prevalence of sickle cell anemia, describe its causes in terms of origin, gene mutation, and genetic tests, and how they are used to identify and treat the condition.(Genetics Case Study Comprehensive Nursing Paper Example)

Prevalence and Incidence

Sickle cell anemia has a high prevalence and social impact globally. It is highly prevalent in Sub-Saharan Africa, the Middle East, the Mediterranean, and India. Although there is no definitive global prevalence and mortality rate of sickle cell anemia, the global migration disorder’s prevalence has significantly growth in other geographical regions. (Genetics Case Study Comprehensive Nursing Paper Example)The World Health Organisation (WHO) (2023) asserts that about 5% of the world’s population have hemoglobin disorders trait genes, with over 300 000 disorders being born with severe hemoglobin disorders yearly. Colombatti et al. (2022) claim that the sickle cell disease birth prevalence of children less than or equal to 1-year measured through newborn screening is highest in the African/Sub- Saharan countries, 500-2000 per 100000 children, followed by Caribbean Islands and South America 20-1000 per 100000 children. In European nations and the United States, the birth prevalence is less than or equal to 500 pre 100000 newborns.(Genetics Case Study Comprehensive Nursing Paper Example)

While Africa has about three-quarters of all sickle cell cases globally, the exact number of people living with sickle cell disease in the US remains unknown. However, the Centers for Disease Control and Prevention (2023) estimates that 100 000 Americans have sickle cell anemia. The disorder is highly prevalent among people of African-American descent, with one in 365 black people having SCD, one in 12 carrying the autosomal recessive mutation gene, and about 300 000 infants are born with SCD annually. Secondly, one in 16300 Hispanic Americans has SCD. The 2018 annual sickle cell prevalence count was 9,141 cases for Georgia and 6,027 for California (Synder et al., 2022). Reeves et al. (2019) assert that 592 newborns in Michigan had SCD accounting for an incidence rate of 2.6 per 10,000 live births, while newborns had sickle cell trait, accounting for an incidence rate of 148.6 per 10,000 live births.(Genetics Case Study Comprehensive Nursing Paper Example)

Causes of Sickle Cell Anaemia

Sickle cell anemia is primarily caused by a point mutation of the HBB gene that provides instructions for making one component of hemoglobin. (Genetics Case Study Comprehensive Nursing Paper Example)Although the condition is genetic, the attack can be triggered by stress, temperature changes, high altitude, or dehydration (Reeves et al., 2019). As such, it is a recessive condition inherited when a child receives the two abnormal copies of the beta-globin gene (HBB) (occurs in chromosome 11) that make hemoglobin from each parent (Sanyaolu et al., 2020). It occurs when both parents are carriers of the sickle gene (sickle cell trait) or when one parent is a carrier while the other has sickle cell disease. When one parent passes the sickle cell gene, the child has a sickle cell trait and does not experience any symptoms.

Gene Mutation in Sickle Cell Disease

Sickle cell anemia is inherited in an autosomal recessive pattern implying that both gene copies in each cell undergo mutations (Sanyaolu et al., 2020). Haemoglobin has four -protein sub-units, two alpha and two beta globin. The HBB gene offers instructions for making beta-globin. The mutations of the HBB gene may produce hemoglobin S (HbS), hemoglobin C (HbC), and Hemoglobin E (HbE), which are abnormal versions of beta-globin. The HBB gene mutation can also result in beta-thalassemia, an abnormality characterized by a low level of beta-globin.(Genetics Case Study Comprehensive Nursing Paper Example)

Among individuals with sickle cell disease, at least one of the beta-globin subunits in the hemoglobin is substituted with hemoglobin S. In sickle cell anemia or homozygous sickle cell disease, the most common sickle cell disease form, hemoglobin S substitutes both beta-globin subunits in the hemoglobin (Sanyaolu et al., 2020). Therefore, the condition is inherited where homozygous individuals for sickle cell hemoglobin portray the signs and symptoms of sickle cell anemia. In contrast, those heterozygous for sickle cell hemoglobin acquire the sickle cell trait without any symptoms.(Genetics Case Study Comprehensive Nursing Paper Example)

Genetic Testing and its Significance

High-performance liquid chromatography and electrophoresis are the most effective strategies for diagnosing sickle cell anemia and trait (Sanyaolu et al., 2020). In high-performance liquid chromatography, the physician uses the needle to obtain a blood sample from a vein in the arm or uses a heel stick to obtain blood samples from the baby. (Genetics Case Study Comprehensive Nursing Paper Example)The test identifies the type of hemoglobin in the blood by differentiating normal Hb from other Hb variants. In this case, two sets of genes that make normal hemoglobin A imply that one has normal red blood cells. On the contrary, more than half of normal hemoglobin A and less than half of abnormal hemoglobin S indicate sickle cell trait. In contrast, almost all abnormal hemoglobin S indicates sickle cell anemia. Newborn screening tests entail prenatal tests to check for HbS by obtaining samples from the placenta or amniotic fluid. The tests start as early as ten weeks after pregnancy.(Genetics Case Study Comprehensive Nursing Paper Example)

Subsequently, capillary or gel-based electrophoresis is instrumental in checking for sickle cell anemia during an individual’s lifespan. The blood tests check for hemoglobin S in sickle cell anemia (Sanyaolu et al., 2020). The absence of hemoglobin S implies negative results, while positive results call for another second test to identify whether both genes are present. The presence of one gene confirms the individual has sickle cell trait, while two genes confirm sickle cell disease. Other diagnostic tests entail Taqman polymerase chain reaction (PCR) and tandem mass spectrometry.(Genetics Case Study Comprehensive Nursing Paper Example)

While the tests are used for diagnosis, they can be used to manage sickle cell anemia by promoting patient monitoring. Besides monitoring, the tests can modify therapies to manage the condition and improve the quality of life (Tsitsikas et al., 2021). Taking tests earlier aid in preventing complications by seeking treatment at the appropriate time. During the screening, the patients and their families receive counseling instrumental to intervention strategies to maintain and improve the health and well-being of individuals at risk of developing the condition.(Genetics Case Study Comprehensive Nursing Paper Example)

Conclusion

Sickle cell anemia results from HBB gene genetic changes. It is prevalent in Sub-Saharan Africa, the Middle East, the Mediterranean, and India. The global migration disorder’s prevalence has significantly growth in other geographical regions. It is more prevalent in the US among individuals of African American descent. It is inherited through an autosomal recessive pattern implying that both gene copies in each cell undergo mutations. Thus, homozygous individuals for sickle cell hemoglobin portray the signs and symptoms of sickle cell anemia. In contrast, those heterozygous for sickle cell hemoglobin acquire the sickle cell trait without any symptoms. However, diagnostic tests such as electrophoresis aid in monitoring sickle cell anemia patients, modifying therapies, and devising treatment strategies for the risk groups and patients.(Genetics Case Study Comprehensive Nursing Paper Example)

References

Centers for Disease Control and Prevention (2023). Data & Statistics on Sickle Cell Disease. https://www.cdc.gov/ncbddd/sicklecell/data.html(Genetics Case Study Comprehensive Nursing Paper Example)

Colombatti, R., Birkegård, C., & Medici, M. (2022). PB2215: Global epidemiology of sickle cell disease: a systematic literature review. HemaSphere, 6(Suppl). (Genetics Case Study Comprehensive Nursing Paper Example)https://doi.org/10.1097%2F01.HS9.0000851688.00394.f4

Reeves, S. L., Jary, H. K., Gondhi, J. P., Kleyn, M., Spector‐Bagdady, K., & Dombkowski, K. J. (2019). Incidence, demographic characteristics, and geographic distribution of sickle cell trait and sickle cell anemia births in Michigan, 1997–2014. Molecular Genetics & Genomic Medicine, 7(8), e795. (Genetics Case Study Comprehensive Nursing Paper Example)https://doi.org/10.1002/mgg3.795

Sanyaolu, A., Agiri, E., Bertram, C., Brookes, L., Choudhury, J., Datt, D., … & Williams, M. (2020). Current modalities of sickle cell disease management. Blood Science, 2(04), 109-116. (Genetics Case Study Comprehensive Nursing Paper Example)https://doi.org/10.1097%2FBS9.0000000000000056

Snyder, A. B., Lakshmanan, S., Hulihan, M. M., Paulukonis, S. T., Zhou, M., Horiuchi, S. S., … & Schieve, L. A. (2022). Surveillance for Sickle Cell Disease—Sickle Cell Data Collection Program, Two States, 2004–2018. MMWR Surveillance Summaries, 71(9), 1. https://doi.org/10.15585%2Fmmwr.ss7109a1

The World Health Organisation (2023). Sickle Cell Disease. Retrieved from https://www.afro.who.int/health-topics/sickle-cell-disease

Tsitsikas, D. A., Kamal, M., Braimoh, A., Benson, S., & Abukar, J. (2021). Hb S (HBB: c. 20A> T) Characteristics by High-Performance Liquid Chromatography in Patients with Sickle Cell Disease Receiving the Novel Agent Voxelotor. Hemoglobin, 45(6), 355-357. https://doi.org/10.1080/03630269.2020.1788074