BCCC Bio 203 A P II Lecturer Research Paper Assignment 40 Po

Bccc Bio 203 A P Ii Lectureresearch Paper Assignment 40 Points

Research paper topic MUST be prior approved by your instructor by due date. Late approvals attract penalty points (-2 pts) and submissions (-2 pts/day late). Research papers USED in ANY other semester/course within or outside the college CANNOT BE SUBMITTED FOR GRADING, Turnitin will Flag it for plagiarism even though its your own work, as ONE paper cannot be USED more than ONCE.

Write up 4 pages max (Plus 1 Cover Pg and 1 Reference Pg.) Total 6 pages. Spacing of 1 or 1.5, font size 11 or 12, margins 1" all round. Use APA format for references. Direct quotations MUST be LESS than 10% of your paper even if correctly cited. Research must include at LEAST 6 different reliable, scientific sources. NO Abstract, table of contents or running head required. Submit your paper on Canvas in the Assignment tab for Plagiarism assessment on ‘Turnitin’ it should not be over 18% matching. If > 18% your paper will be returned as plagiarized WITH ZERO SCORE. DO NOT send by email to your instructor.

You are required to write a critical analysis of the disease of your choice, explaining how it affects the various body systems where relevant. Include the following information if pertinent:

  • Name of disease
  • History and demographic data: Age, sex, race, population distribution
  • Description of disease
  • Anatomy of involved system(s)
  • Effects on other body systems
  • Cause of disease
  • Signs and symptoms
  • Diagnosis
  • Complications, if any
  • Treatment options

In the conclusion, briefly mention current or proposed research that may significantly impact the disease, prevention strategies if any, and your insight or opinion. Focus on the anatomy & physiology of the disease/disorder, discussing the normal anatomy & physiology of the affected organ/system and how the disease/disorder impacts it and other systems. For example, if choosing tuberculosis, describe how the bacteria evade defenses and affect lung tissue and function.

Paper For Above instruction

Title: The Impact of Sickle Cell Anemia on Human Physiology and Body Systems

Introduction

Electing to explore sickle cell anemia (SCA) provides an insightful perspective into hereditary blood disorders and their systemic impacts. Sickle cell anemia is a genetic disorder characterized by abnormal hemoglobin S, which causes red blood cells to adopt a sickle or crescent shape. This shape impairs their ability to transport oxygen efficiently and increases their propensity for hemolysis and vaso-occlusion (Rees et al., 2010). The disease predominantly affects individuals of African, Mediterranean, Middle Eastern, and Indian ancestry, with variable prevalence across global populations. Understanding its pathophysiology within the framework of human anatomy and physiology reveals how a single genetic mutation disrupts multiple body systems, leading to complex clinical manifestations.

Historical and Demographic Background

Sickle cell anemia first gained medical recognition in the early 20th century, with Sir Ernest E. Irons referencing its unique morphology in 1910. It reached epidemiological prominence because of its high prevalence among African Americans, with approximately 1 in 12 individuals carrying the sickle cell trait, and about 1 in 365 affected with the disease (Serjeant, 2013). The distribution mirrors historical adaptive responses to malaria, as carriers of the sickle cell trait exhibit some resistance to Plasmodium falciparum. The disease affects both sexes equally and manifests across all age groups, with severity modulated by genetic and environmental factors.

Description of Disease and Pathophysiology

Sickle cell anemia is caused by a point mutation in the β-globin gene, leading to the substitution of valine for glutamic acid at the sixth amino acid position of hemoglobin S (Ingram, 1957). Under deoxygenated conditions, hemoglobin S polymerizes, causing red blood cells to stiffen and adopt a sickle shape. These deformed cells are less flexible, prone to hemolysis, and tend to occlude small blood vessels, impairing blood flow. This results in a cascade of physiological disturbances affecting oxygen delivery, vascular health, and organ function.

Anatomy and Physiology of Affected Systems

The primary system impacted by SCA is the hematologic system—specifically, the circulatory pathway comprising red blood cells, blood vessels, and hemoglobin function. Normally, red blood cells are biconcave, flexible discs optimized for oxygen transport through a vast network of capillaries. Hemoglobin within these cells binds oxygen in the lungs and releases it in tissues, maintaining homeostasis. In SCA, the structural deformity of cells diminishes their oxygen-carrying capacity, reduces their deformability, and leads to hemolytic anemia. The spleen, a key organ in filtering defective blood cells, becomes overwhelmed, leading to splenic sequestration and functional asplenia.

Beyond the blood, SCA affects multiple organ systems. The cardiovascular system bears the burden of vaso-occlusion, which causes ischemia, infarctions, and chronic organ damage. The musculoskeletal system suffers from periodic occlusive crises resulting in pain episodes. The skeletal system is further compromised by marrow hyperplasia, leading to deformities. The lungs are vulnerable to acute chest syndrome, a severe complication characterized by chest pain, hypoxia, and pulmonary infiltrates (Miller et al., 2017). The nervous system risks stroke due to cerebrovascular occlusion. Kidneys experience ischemic damage, impairing renal function, and the liver may suffer from ischemic hepatopathy.

Signs, Symptoms, and Diagnosis

Patients with SCA often present with chronic anemia, characterized by fatigue, pallor, jaundice, and episodes of vaso-occlusive pain crises. Acute events may include swelling of hands and feet, hand-foot syndrome, and fever. Remarkably, children may experience dactylitis—the inflammation and swelling of the small bones in the hands and feet. Laboratory diagnosis involves a peripheral blood smear showing sickled cells, elevated reticulocyte count indicating reticulocyte response to hemolytic anemia, and hemoglobin electrophoresis confirming the presence of hemoglobin S. Prenatal screening and newborn testing are crucial for early diagnosis (Piel et al., 2017).

Complications and Treatment Options

Complications of SCA encompass stroke, pulmonary hypertension, renal failure, splenic sequestration, and susceptibility to infections due to functional asplenia. Standard treatments include hydroxyurea, which increases fetal hemoglobin production, thereby reducing sickling episodes. Blood transfusions help manage severe anemia or prevent stroke. Bone marrow transplantation offers a potential cure but is limited by donor availability and risk factors. Supportive care with analgesics, hydration, and preventive antibiotics is essential. Recent research explores gene-editing technologies such as CRISPR-Cas9 for potentially correcting the genetic defect.

Current Research and Prevention Strategies

Emerging therapies focus on gene therapy approaches, aiming to induce hemoglobin switching or correct the S-globin gene mutation. For example, clinical trials involving lentiviral vectors demonstrate promising results for durable gene correction (Charrier et al., 2020). Preventative strategies predominantly comprise genetic counseling, early screening, and vaccination to reduce infection risk. Public health initiatives targeting prevalence awareness have significantly decreased morbidity and mortality in affected regions.

Insight and Opinion

Given the rapid technological advances in gene editing, the prospect of curing sickle cell anemia becomes more tangible. Ethical considerations, equitable access to therapy, and long-term safety remain challenges. It is imperative that future research continues to optimize gene therapy techniques and explore affordability and accessibility for affected populations. Preventive screening and comprehensive care programs should be reinforced globally, especially in regions with high disease prevalence, to mitigate its burden on individuals and healthcare systems.

Conclusion

Sickle cell anemia exemplifies how a single genetic mutation can cascade into multi-system pathology, profoundly affecting human physiology. Advances in molecular biology hold promise for transformative therapies, but existing management strategies and preventive measures remain crucial. Understanding the normal anatomy and physiology of the hematologic system provides context for how cellular and molecular disruptions translate into clinical disease, guiding better treatment paradigms and research directions.

References

  • Charrier, S., et al. (2020). Gene Therapy for Sickle Cell Disease: Challenges and Perspectives. Blood Reviews, 41, 100651.
  • Ingram, V. M. (1957). A Specific Chemical Difference Between the Hemoglobins of Sickle-Cell Anemia and Normal Subjects. Nature, 180(4581), 326–328.
  • Miller, S. T., et al. (2017). Acute Chest Syndrome in Sickle Cell Disease: Pathophysiology and Management. Blood Cells, Molecules, and Diseases, 66, 125–132.
  • Piel, F. C., et al. (2017). Global Epidemiology of Sickle Cell Disease. Blood, 129(13), 1542–1549.
  • Rees, D. C., et al. (2010). Sickle-cell Disease. The Lancet, 376(9757), 2018–2031.
  • Serjeant, G. R. (2013). The Bending Light: Sickle Cell Disease and Its Management. Oxford University Press.

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