Sickle Cell Anemia Analysis
Introduction
This case study will comprehensively review sickle cell anemia, a debilitating disease that decreases the patient’s quality of life. This assignment will discuss the mutation of the disease and the process it takes from one level to the other. The assignment will also discuss how the disease starts, whether inherited or acquired and present the disease’s analysis and important features that contribute to finding the cure.
Sickle Cell Anemia Analysis
Sickle cell anemia is a group of inherited red blood cell disorders. It affects the red blood cells turning them from their usual round flexible discs into sticky and stiff sickled cells (Nezhad et al., 2018). Red blood cells cannot fulfill their primary function of transporting oxygen throughout the body when they are hindered by sickle cells.
In addition, sickle cells do not have a lifespan comparable to that of normal red blood cells (Quinn, 2018). Because of this, the body lacks sufficient healthy red blood cells; consequently, it gets anemia, the disease responsible for giving sickle cell anemia its name.
According to statistics, 5% of the world’s population carries genes for hemoglobin disorders, mainly thalassemia and sickle cell (Nezhad et al., 2018). Hemoglobin disorders are blood diseases that are genetic, resulting from the inheritance of mutant hemoglobin genes from both generally healthy parents (Alvarez et al., 2019). Nearly 300,000 babies are born with hemoglobin disorder each year, and only a few survive to adulthood.
However, unlike other conditions, the hemoglobin disorder burden can be reduced significantly by implementing prevention programs and management strategies. However, with the increased technological advancement, things have changed. At least half of the population born with sickle cell anemia have a chance to live in their 50s. This, therefore, guarantees that even if people with sickle cell anemia are faced with other health complications, the healthcare providers can reduce the complications and ease the symptoms whenever they happen.
Possible Laboratory Testing For Sickle Cell Anemia
When diagnosing sickle cell anemia, physicians can use a blood test to check for hemoglobin that underlies sickle cell anemia. However, the doctor can also suggest other tests to assess other conditions that could result from the disease. Alvarez et al. (2019), for parents who have sickle cell anemia, the doctors can conduct laboratory tests to detect the presence of sickle cell anemia by conducting a test on the amniotic fluid surrounding the baby in the womb.
The screening helps detect the condition before the child is born; hence start early preparations to compact the situation before it gets out of control (Nezhad et al., 2018). However, there is a need to perform a second blood test to confirm the diagnosis that was previously observed.
Quinn (2018) highlights that blood testing can also easily identify whether the baby has more hemoglobin S than hemoglobin A. The physician can also choose to conduct alternative tests to assess the liver functions, reticulocyte count, CBC with differential, and complete metabolic panel.
The tests also aim at identifying the disease’s intensity and where there is a possibility of transfusion for the patient. Therefore, by conducting multiple tests, the physician will estimate the disease intensity in the body, hence identifying an appropriate treatment mechanism that is specific to the patient and will address personalized symptoms of the patient.
Guidelines and Reasons behind the FDA Regulations for Introducing New Pharmaceutical Agents
The FDA drug approval process for new pharmaceutical companies seeking to sell drugs aims at completing a five-step process. They need to show proof of preclinical research, discovery/concept, clinical research, FDA post-market safety monitoring, and the FDA review. The new regulations aim to ensure that people only access medications offered to the general public is safe and observe the interests of the people.
The regulations also aim and ensuring that whatever gets to the market is approved for use by physicians, and it guarantees to meet the expected outcomes once used by the patients. Therefore, when the FDA places the regulations high, it eliminates and disqualifies the interest in counterfeit medication on the market (Cordaillat-Simmons et al., 2020). Improving the medication market ensures restoring the responsibility of a healthy lifestyle in the hands of the purported patients.
The role of the FDA in regulating also helps the physician’s work by ensuring patients can only access the right medication with minimal risks of getting counterfeit. Additionally, through regulations, the body makes it easy to develop a standard price range that all pharmacists will use to regulate the price range (Cordaillat-Simmons et al., 2020).
The regulations also ensure that patients with sickle cell anemia are unable to get the correct medication information and are not economically ready to hustle searching for the right medication. When introducing new medicines to the market, the expert perspective is critical. Therefore, the introduction process, vetting, and approval process will demonstrate the effectiveness and safety of the medication to the intensity.
The Role of Money and Grants in Scientific Advances
Money and grants play a critical role in scientific advances. Research funding, mostly referred to as grants, is obtained after conducting scientific research through a competitive process. The presence of money or grants in research ensures that the scientists and sponsors are comfortable executing their duties (Sauermann et al., 2018).
When researching various medications, scientists are expected to conduct multiple sampling and testing of various tissues to understand the symptoms and mutation of diseases (Alvarez et al., 2019). These researches often go for months and sometimes years before reaching a conclusion. The availability of resources and infrastructure in the research industry is critical, and it helps in the realization of respective projects.
The Role and Involvement Family Plays In The Health Care Decision
Family members play a critical role in caring for patients, including their contribution to improving the quality and safety of care, decision-making, assisting in-home care, and assisting the healthcare team in providing care. Therefore, it is essential to involve families in various steps of the patient’s journey from diagnosis to treatment (Sauermann et al., 2018).
This ensures that the patient has a sufficient healthcare facility and home support system. Further, Nezhad et al. (2018) note that when family members are provided with information, it also helps to ensure that the patient is not overwhelmed trying to explain every step of the disease and treatment. Instead, they will have an excellent support system that will keep the patient comfortable throughout the process.
The family is also responsible for ensuring the patient is on track with the medication by reminding them when it’s due and taking them for respective doctor appointments and checkups. The family also offers a reliable support system, ensuring the patient is less stressed and can effectively follow through with the treatment options without pressure from others.
Conclusion
Understanding the different aspects of human health and the relevant bodies involved in improving the quality of life is critical. Synchronizing the roles of respective personnel from the patient, family, and regulatory bodies ensure to provide simplicity in service delivery. Patients suffering from diseases such as sickle cell anemia are also responsible for ensuring that they take their health matters into account and improve their quality of life.
References
Alvarez, O. A., Hustace, T., Voltaire, M., Mantero, A., Liberus, U., & Saint Fleur, R. (2019). Newborn screening for sickle cell disease using point-of-care testing in low-income setting. Pediatrics, 144(4). https://doi.org/10.1542/peds.2018-4105
Cordaillat-Simmons, M., Rouanet, A., & Pot, B. (2020). Live biotherapeutic products: the importance of a defined regulatory framework. Experimental & Molecular Medicine, 52(9), 1397-1406. https://www.nature.com/articles/s12276-020-0437-6
Nezhad, F. H., Nezhad, K. H., Choghakabodi, P. M., & Keikhaei, B. (2018). Prevalence and genetic analysis of α-and β-thalassemia and sickle cell anemia in Southwest Iran. Journal of Epidemiology and Global Health, 8(3-4), 189. doi: 10.2991/j.jegh.2018.04.103
Sauermann, H., Franzoni, C., & Shafi, K. (2019). Crowdfunding scientific research: Descriptive insights and correlates of funding success. PloS One, 14(1), e0208384. https://doi.org/10.1371/journal.pone.0208384
Quinn, C. T. (2018). l-Glutamine for sickle cell anemia: more questions than answers. Blood, The Journal of the American Society of Hematology, 132(7), 689-693. https://doi.org/10.1182/blood-2018-03-834440
Sickle Cell Anemia Analysis Instructions
Use an example from your own personal practice, experience, or your own personal/family (however, simulated cases are not acceptable for practice hours and therefore not acceptable for this assignment). Examples might include a patient with Duchesne\'s muscular dystrophy, Huntington\'s disease, Down\'s syndrome, sickle-cell anemia, BRCA 1 or BRCA 2 mutations, or another genetic disorder that you or the organization you practice in may specialize in treating.
For this assignment (Part 2 of the Case Study), write a paper (1,000-1,250 words) incorporating genetics information learned from assigned readings in Topics 1-3. Include the following:
1. Describe if chromosomal analysis is/was indicated.
2. Detail the causes of the disorder.
3. Describe the disorder in terms of its origin as either a single gene inheritance or as a complex inheritance and considerations for practice and patient education.
4. Analyze the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.