Genetics

For this assignment (Part 3 of the Case Report), write a 1,000 word paper
incorporating genetics information learned from assigned readings in Topics 1-5. Include
the following:

  1. Examine how genetics can influence policy issues.
  2. Discuss any nutritional influences for the cause of this disease (sickle cell anemia)
  3. Discuss the process of nutritional assessment and counseling as it relates to health,
    prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of
    treatment effectiveness.
  4. Discuss the prevalence rates, testing, treatment, and prognosis as they relate to
    human nutrition.

Case Report: Part 3

Sickle cell anemia is a condition characterized by abnormally shaped red blood cells, leading to
the reduced amount of hemoglobin below normal limits for age and sex. Genetics play an
important role in the development, the diagnosis, prevention and the treatment of sickle cell
disease (Yawn, Buchanan, Afenyi-Annan, Ballas, Hassell, James, & Tanabe, 2014). The
following is a discussion of the influence of genetics on policymaking, effects of the genetics of
sickle cell disease and the prevalence and prognosis of sickle cell anemia about human nutrition.

CASE REPORT 2

Genetics and Policy Issues

According to the World Health Organization, (WHO) genetics involves the inheritance of
characteristics from the parent to the offspring. Policymaking consists of the development of
guidelines, pursued by the government and its agencies and which guide the provision of specific
services, for instance, healthcare (Yawn, Buchanan, Afenyi-Annan, Ballas, Hassell, James, &
Tanabe, 2014). The advancement of biotechnology has led to several discoveries pertaining
genetics including; ability to develop an individual genetic mapping, ability to genetically
modify genetic makeup of an organism for therapeutic purposes and discovery of genetically
related diseases. To begin with, genetics determines the development of policies preventing
discrimination. The advancement of biotechnology has made it possible for determination of an
individual’s genetic makeup. If the individual is susceptible to genetic diseases, and potential
employers access the information, such individuals are at risk of discrimination. Therefore,
policymakers, through public participation should develop legal frameworks that prevent access
to individuals’ information regarding their genetic susceptibility to medical conditions.
Additionally, research on human genetics can influence policymaking. Testing genetically
modified foods and drugs and other therapeutic methods are conducted on human subjects as the
study of genetics advances. In research, human subjects are at risks of injury and harm. Although
there are general principles that guide the conduction of research using human subjects, there
need to be specific ethical and legal guidelines specifically for genetic research involving human
subjects. Additionally, currently, there exist several diagnostic and therapeutic techniques that
are based on human genetics. Therefore, policies that facilitate access to the information and
resources relating to services on genetic mapping, counseling, and treatment should be put into
place. An increase in the number of resources allocated for this purpose should be guided by

CASE REPORT 3
public policy developed through public participation (Botkin, Belmont, Berg, Berkman,
Bombard, Holm, & Wilfond, 2015).

Nutritional Influences for Sickle Cell Anemia

The nutrition and the development sickle cell disease have been associated in several
clinical studies. Laboratory assessments of individuals diagnosed with the sickle cell disease
have shown reduced amounts of vitamins B6 and E in these subjects. Besides, the
supplementation of folic acid in the treatment of persons with sickle cell disease has shown
improvements in the oxygen-carrying capacity of the red blood cells and the gradual and
eventual improvement of the associated clinical signs and symptoms. In sickle cell disease, the
abnormally shaped cells are rapidly broken down in the spleen, and thus, their half-life is sixteen
to twenty days, against the normal lifespan of one hundred and twenty days. The rapid hemolysis
process may lead to the enlargement of the spleen. The enlargement of the spleen may be treated
with splenectomy. In other words, the functioning of the spleen in sickle cell disease individuals
is adversely affected. The spleen plays an immune role in the production of immune cells and
also in the recognition and destruction of pathogenic cells and particles. Therefore, sickle cell
patients require sufficient vitamins for the prevention of infections associated with sickle cell
disease. Besides, the clinical symptoms of sickle cell disease lead to the occlusion of small blood
vessels by the abnormally shaped red blood cells. When patients are dehydrated, the blood
plasma loses most of the water content. Therefore, the blood becomes thick and the bold red cells
can easily stick tone to another, therefore, occluding the blood vessel and causing sickling crises
and destruction of the blood vessel endothelium (Ohemeng& Boadu, 2017).
Nutritional Assessment and Counseling

CASE REPORT 4
Nutritional assessment is the process of collecting data and information regarding an
individual’s dietary intake and the nutritional status of the body for prevention, diagnosis, and
management of nutrition-related medical conditions. Nutritional assessment is undertaken
through various steps. The different nutritional assessment methods used are the dietary history
taking, anthropometric measurement, biochemical tests and clinical data. Dietary history taking
involves getting subjective data from the client on the nutritional composition, the amount and
the method of preparation of the food they have taken within the last 24 hours. Dietary recall
helps in determining the amount and the nutritional value of the food recently taken. The data
helps in identifying deficiencies in the nutritional composition of the meals, and the potential
nutritional deficiencies that the patient is at risk. The nutritionist, therefore, can advise and take
preventive measures on the nutritional risk issues, for instance, advice on the proper diets.
Anthropometric measurements include measurements of the skinfold thickness, mid-upper arm
circumference, height, weight and calculation of body mass index. These measurements are
indicators of the fat and caloric content in the body. Therefore the measurements can diagnose
inadequate dietary intake or excessive dietary intake in affected individuals. Thus, the results of
the measurements can be used for prevention of dietary related medical conditions or the
diagnosis of nutrition-related conditions. Clinical history involves taking information regarding
any already diagnosed medical conditions, treatment procedures for example surgical procedures
and ongoing pharmacological treatment. Information on any current medical condition helps in
identifying the etiologies of current nutritional concerns, for instance, malabsorption disorders
explain deficiency of certain nutrients and treatment procedures, for instance, gastrostomy, affect
the absorption of some nutrients from the stomach. Concurrent medication, for instance,

CASE REPORT 5
chemotherapy causes vomiting, which may lead to the deficiency of certain nutrients (Tang,
Quick, Chung, & Wanke, 2015).

Prevalence Rates, Testing, Treatment, and Prognosis
Sickle cell anemia affects approximately one hundred thousand Americans. The
prevalence rates are in individuals of African American descent and Hispanic origin. However,
apart from the original background as a factor that affects the prevalence of sickle cell trait, the
prevalence is affected by the nutritional status of the individuals. Specifically, in the individual s
diagnosed with nutritional deficiencies, for instance, individuals presenting with vitamin and
micronutrient deficiencies the incidence of sickle cell disease increase by approximately 20%.
Also, the method if testing for sickle cell disease is affected by human nutrition. In individuals
presenting with symptoms suggestive of sickle cell anemia, the laboratory testing of lipid and
micronutrient profiles are some of the testing procedures to undertake. In patients diagnosed with
sickle cell disease, the treatment involves dietary supplementation with adequate amounts of
water in the food and sufficient nutrients to boost the body immunity against potential infections
(Yawn, Buchanan, Afenyi-Annan, Ballas, Hassell, James, & Tanabe, 2014).

In summary, concerns surrounding genetics should be taken into consideration while
developing policies to address the underlying economic and social concerns. Sickle cell anemia
is significantly influenced by the nutritional intake and status of the affected individual. There
are several methods of carrying out nutritional assessment and counseling aimed and diagnosing
and treating sickle cell anemia disease. The prevalence and treatment of sickle cell disease are
mostly affected by the underlying nutritional relevance to the condition.

CASE REPORT 6

References

Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., … &
Wilfond, B. S. (2015). Points to consider: ethical, legal, and psychosocial implications of
genetic testing in children and adolescents. The American Journal of Human Genetics,
97(1), 6-21.

CASE REPORT 7
Ohemeng, A., & Boadu, I. (2017). The role of nutrition in the pathophysiology and management
of sickle cell disease among Children: A Review of literature. Critical reviews in food
science and nutrition, 1-7.
Tang, A. M., Quick, T., Chung, M., & Wanke, C. A. (2015). Nutrition Assessment, Counseling,
and Support (NACS) interventions to improve health-related outcomes in people living
with HIV/AIDS: a systematic review of the literature. Journal of acquired immune
deficiency syndromes (1999), 68(0 3), S340.
Yawn, B. P., Buchanan, G. R., Afenyi-Annan, A. N., Ballas, S. K., Hassell, K. L., James, A. H.,
… & Tanabe, P. J. (2014). Management of sickle cell disease: summary of the 2014
evidence-based report by expert panel members. Jama, 312(10), 1033-1048.

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