1. Describe Sickle Cell Disease, its prevalence, its incidence and general knowledge of the disease. 2. Discuss the laboratory testing that can be done. 3. Describe if chromosomal analysis is/was indicated and detail the chromosomal change that caused the disease if it is a chromosomal disorder. 4. 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. 5. Describe the gene mutation of the sickle cell disease, as well as whether it is acquired or inherited, and how the mutation occurs. 6. Examine how genetics can influence policy issues. 7. Discuss any nutritional influences for this disease. 8. Process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness. 1. Guidelines and reasons behind the FDA regulations for introducing new pharmaceutical agents (policy). 2. The role that money and grants play in scientific advances/the economics of health care (capitalism). 3. The role and involvement family plays into the health care decision.

1. Sickle Cell Disease (SCD) is a genetic disorder that affects the structure and function of red blood cells. It is characterized by the presence of abnormal hemoglobin, known as hemoglobin S, which causes the red blood cells to become rigid and assume a sickle-like shape. This abnormal shape hinders the cells’ ability to flow smoothly through blood vessels, leading to vaso-occlusion and various complications.

SCD is most prevalent in populations with African, Mediterranean, Middle Eastern, and Indian ancestry. It is estimated that approximately 300,000 infants are born with SCD worldwide each year. In the United States, it is more common among African Americans, with approximately 1 in every 365 African American births being affected by SCD.

2. Laboratory testing plays a critical role in the diagnosis and management of SCD. The most commonly used test is the hemoglobin electrophoresis, which separates different types of hemoglobin based on their electrical charge. This test can differentiate between normal hemoglobin, hemoglobin S, and other abnormal hemoglobin variants.

Other laboratory tests that may be performed include complete blood count (CBC) to assess the levels of red blood cells, white blood cells, and platelets, as well as tests to evaluate organ function, such as liver and kidney function tests.

3. SCD is a result of a chromosomal change involving the beta-globin gene located on chromosome 11. The most common chromosomal change associated with SCD is a single nucleotide substitution in the beta-globin gene, which results in the substitution of glutamic acid with valine at position 6 of the beta-globin chain. This change is caused by a point mutation in the gene, specifically a substitution of adenine for thymine in the DNA sequence.

4. SCD is primarily inherited as a single gene disorder, specifically an autosomal recessive disorder. This means that individuals need to inherit two abnormal copies of the beta-globin gene (one from each parent) in order to develop SCD. If an individual inherits only one abnormal gene, they are said to have sickle cell trait, which may present with milder symptoms or be asymptomatic.

Considerations for practice and patient education in SCD include genetic counseling for individuals and families at risk, comprehensive care management to prevent and manage complications, and education about the importance of adherence to treatment and avoiding triggers that can precipitate a sickle cell crisis.

5. The gene mutation responsible for sickle cell disease involves a single nucleotide substitution in the beta-globin gene, resulting in the production of abnormal hemoglobin S. This mutation is inherited and passed down from parents to their offspring. The mutation occurs during the production of sperm or eggs, where there is an error in the DNA replication process that leads to the substitution of adenine with thymine in the beta-globin gene.

6. The field of genetics has significant implications for policy issues. For example, policies may be developed to support genetic testing and screening programs for individuals and couples at risk for genetic disorders like SCD. Additionally, genetics can inform decisions regarding reproductive choices, such as pre-implantation genetic diagnosis and prenatal testing. Genetic research and advancements can also shape policies related to access to genetic therapies and interventions for individuals with genetic disorders.

7. Nutritional influences play a role in SCD management as certain dietary factors can impact the severity and frequency of sickle cell crises. Adequate hydration is important to maintain blood flow and prevent dehydration, which can worsen the sickling of red blood cells. Nutritional supplementation with folic acid is often recommended to support red blood cell production. A diet rich in fruits, vegetables, whole grains, and lean proteins can provide essential nutrients for optimal health and well-being.

8. The process of nutritional assessment and counseling in SCD involves evaluating the individual’s dietary intake, medical history, and nutritional needs. It includes providing personalized dietary recommendations to ensure adequate nutrient intake, addressing any nutrient deficiencies or excesses, and promoting overall health and well-being. Nutritional counseling may also involve education on food safety, meal planning, and strategies for managing specific symptoms or complications associated with SCD.

In conclusion, Sickle Cell Disease is a genetic disorder characterized by abnormal hemoglobin and sickle-shaped red blood cells. Laboratory testing, including hemoglobin electrophoresis, is essential for diagnosis and management. SCD is primarily inherited as a single gene disorder and understanding the genetic mutation aids in patient education and counseling. The field of genetics has wider implications for policy issues related to genetic testing and interventions. Nutritional influences and assessment play a role in supporting overall health in individuals with SCD.