DNP810 Genetics GCU Down’s Syndrome Case Analysis Report You will be creating a case report in stages over four course topics. This assignment will add to

DNP810 Genetics GCU Down’s Syndrome Case Analysis Report You will be creating a case report in stages over four course topics. This assignment will add to your previous work in Topic 2. Use an example from your own personal practice, experience, or 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 other genetic disorder that you and/or the organization you practice in may specialize in treating.

General Requirements:

Use the following information to ensure successful completion of the assignment:

This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.

Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.

This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.

You are required to submit this assignment to LopesWrite. Please refer to the directions in the Student Success Center.

Directions:

For this assignment (Part 2 of the Case Report), write a 1,000-1,250 word paper 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.

Portfolio Practice Hours:

Practice immersion assignments are based on your current course objectives, and are intended to be application-based learning using your real-world practice setting. These assignments earn practice immersion hours, and are indicated in the assignment by a Portfolio Practice Hours statement which reminds you, the student, to enter in a corresponding case log in Typhon. Actual clock hours are entered, but the average hours associated with each practice immersion assignment is 10.

You are required to complete your assignment using real-world application. Real-world application requires the use of evidence-based data, contemporary theories, and concepts presented in the course. The culmination of your assignment must present a viable application in a current practice setting. For more information on parameters for practice immersion hours, please refer to DNP resources in the DC Network. Running head: CASE REPORT 1
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Case Report 1: Sickle Cell Anemia
Julie Ann Childers
Grand Canyon University: DNP 810
February 1, 2019
CASE REPORT 1
2
A Case for Sickle Cell
Approval of a drug by the Food and Drug Administration (FDA) means that data
concerning the effects of the drug have been reviewed by the Center for Drug Evaluation and
Research (CDER). “This means that the benefits of the drug are determined which outdo the
known and potential risks for the population intended to use the drug” (FDA, 2018). The goal the
of FDA is to help ensure there is a new treatment regimen that is available for human
consumption as it becomes available as well as confirming that newer treatments are successful
and safe for human use. The process of FDA in the approval of the drugs in lengthy and costly.
The public has asked FDA to loosen the regulations as this will facilitate more rapid approval of
drugs. However, the FDA still insists that the process ensures that all the precautions must be
done and the process to be thorough to ensure that there are no occurrences of harm and deaths
of patients. Money and grants in the healthcare industry are important as it helps researchers to
come up with peer-reviewed studies that indicate the effectiveness of new therapies that can be
used in the healthcare industry worldwide (Myler, 2015). Therefore, grants and money in
healthcare help in the writing and publishing of research papers. The process documents the
findings and the gaps as well as what future research should entail. With this said, it is essential
to ensure that continuous research is done to come up with new cares as well as medicine that
will help in the management of different conditions.
Disease Background
“Sickle cell disease is a group of disorders affecting the molecule in the red blood cells
which are responsible for delivering oxygen to the cells all over the body” (Costa & Conran,
2016). The molecule is known as hemoglobin. The cause of the disease is an imperfect gene
known as the sickle cell gene. People affected with sickle cell disease inherit a pair of genes that
CASE REPORT 1
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cause the disease. For a person to have th disease, both parents must have the sickle cell trait.
Individuals with only one sickle cell gene have sickle cell trait, and the gene can be passed to the
offspring. A normal red blood cell is biconcave and disk-shaped while in sickle cell disease the
red blood cell changes into crescent or sickle-shaped. This is attributed to the atypical
hemoglobin molecules; hemoglobin S, that forms stiff rods within the cells. They are therefore
rendering the red blood cells unable to change shape easily since they are not flexible. They end
up bursting as they move through the blood vessels.
The lifespan of sickle cells is approximately 10 to 20 days rather than the 90 to 120 days
which is the life span of normal red blood cells. In sickle cell disease, the body is unable to make
new red blood cells to replace the ones that are lost. This is the reason as to why patients with the
condition do not have enough red blood cells and have a condition called sickle cell anemia. The
sickle cells also stick to the walls of the blood vessels leading to blockage which slows or stops
the flow of the blood entirely. This leads to a lack of oxygen reaching to nearby tissues which
cause severe pain which is normally sudden (Ballas, 2015). The signs and symptoms of the
disease include fatigue, jaundice, painful swelling of feet and hand, susceptibility to infections,
anemia, and episodes of pain (Maakaron, 2019).
Global Effect
Sickle cell disease affects millions of people globally. “However, it is common among in
people whose ancestry background is from sub-Saharan Africa, South America, Central
America, the Caribbean, Saudi Arabia, India, Turkey, Italy and Greece” (CDC, 2017). The
prevalence of sickle cell trait is very different in various regions. The highest level is 40% in subSaharan Africa, Saudi Arabia, and Central India. About 1,000 children in Africa are born with
the disease, and more than 50% die before they reach five years old. The prevalence if the
CASE REPORT 1
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disease is higher in India especially the western and central regions of India. About 20% of the
children with the disease die before they reach the age of 2. In countries with poor resources,
more than 90% of the children with the disease are not able to survive to adulthood (Arty, et al.,
2012). It is expected that by 2050, the number of people with sickle cell disease will increase by
30% worldwide.
The exact number of individuals with the condition in the United States is not known. “In
2010, the total incidence of the country’s estimated sickle cell trait was 15.5 per 1,000 births.
This ranges from 0.8 cases per 1,000 births in Montana to 34.1 cases per 1,000 births in
Mississippi. Research indicates that about 100,000 Americans are affected by the disease. It
occurs among one out of 365 births of Blacks or African-Americans and one out of 16,300 births
of Hispanic-Americans. Approximately 1 in 13 African-Americans or Blacks baby is born with
sickle cell trait. The total number of babies with traits of the sickle cell was an estimation of
more than 60,000” (CDC, 2017). The incidence varies in each state, and other factor that should
be considered are ethnicities and race.
Many people born with sickle cell disease are surviving to become adults, but not without
challenges. Research has already identified many barriers including frequent emergency room
visits, poor follow-up after hospital discharges, non-compliance and limited access to
hydroxyurea the drug that is the best treatment for painful symptoms and it lengthens survival.
Some foundations such as the National Heart, Lung, and Blood Institute (NHLBI) have bestowed
millions of dollars in grant money to help improve the quality of health care for individuals with
sickle cell disease.
CASE REPORT 1
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Family Genetics
Family members play a vital role in the recovery process. This is because they ensure that the
patient takes the medication at the stipulated time as well as making the required lifestyle
changes to facilitate recovery. It is thus essential to ensure that family members are involved in
the decision-making process.
Different laboratory tests can be used to test for sickle cell disease. These include:
•
Hemoglobin solubility test
•
Hemoglobinopathy evaluation which is done through hemoglobin electrophoresis,
hemoglobin isoelectric focusing, and high-performance liquid chromatography (HPLC).
It helps in detecting abnormal types, and it measures the relative amounts of hemoglobin
that are in the red blood cells (Ferri, 2015).
•
Genetic testing. It involves the analysis of the DNA in investigating gene mutations that
encode components of the hemoglobin. This test also tests if an individual is a carrier for
the disease. The test can also be done in prenatal by either the evaluation of cell-free fetal
DNA that is isolated from the circulation of the mother or through the analysis of the
DNA of the cells of the fetus from the amniotic fluid through amniocentesis.
•
Complete blood count. It determines the number and average size of red blood cells and
the amount of hemoglobin in the cells. Individuals with sickle cell disease have low.
•
Blood smear. Screens for red blood cells that are abnormal and those that are sickleshaped.
•
Renal functions that are creatine, BUN, and urinalysis.
•
Hepatobiliary function tests including fractionated bilirubin and Alanine
aminotransferase
CASE REPORT 1
•
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Arterial blood gas tests (Maakaron, 2018).
There have been great strides made in the treatment of Sickle Cell Disease. People are living
longer with the disease and having a better quality of life. Research continues to try to find more
ways to control and manage symptoms. With genetic testing becoming more sophisticated there
will continue to be more open doors to a possible cure.
CASE REPORT 1
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References
Arty, G., Seth, R., Bodas, P., Zen, L., Zanolli, F. A., & Dall’Amico, R. (2012). Prevalence of
Sickle Cell Disease, Hemoglobin S, and Hemoglobin C Among Haitian Newborns:
Feasibility of Newborn Screening for Hemoglobinopathies in Haiti. Blood, 4235.
Ballas, S. K. (2015). Sickle Cell Pain. Wolters Kluwer Health.
CDC. (2017, August 9). Data & Statistics on Sickle Cell Disease. Retrieved from Centers for
Disease Control and Prevention: https://www.cdc.gov/ncbddd/sicklecell/data.html
Costa, F. F., & Conran, N. (2016). Sickle Cell Anemia: From Basic Science to Clinical Practice.
Springer.
FDA. (2018, June 13). Development & Approval Process (Drugs). Retrieved from U.S. Food &
Drug Administration:
https://www.fda.gov/Drugs/DevelopmentApprovalProcess/default.htm#FDA
Ferri, F. F. (2015). Ferri’s Clinical Advisor 2016 E-Book: 5 Books in 1. Elsevier Health
Sciences.
Maakaron, J. E. (2018, September 4). Which lab tests are performed in with the workup of sickle
cell disease (SCD)? Retrieved from Medscape:
https://www.medscape.com/answers/205926-15255/which-lab-tests-are-performed-inwith-the-workup-of-sickle-cell-disease-scd
Maakaron, J. E. (2019, January 29). Sickle Cell Anemia. Retrieved from Medscape:
https://emedicine.medscape.com/article/205926-overview
Myler, L. (2015, September 24). Healthcare Innovation: Show Me The Grant Money. Forbes.
CASE REPORT 1
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I, Julie Ann Childers, verify that I have completed 10 clock hours in association with the
goals and objectives for this assignment. I have also tracked said practice hours in the Typhon
Student Tracking System for verification purposes and will be sure that all approvals are in place
from my faculty and practice mentor.
Course Code
DNP-810
Class Code
DNP-810-IO1240
Criteria
Content
Percentage
70.0%
Description of Whether or Not Chromosomal
Analysis Is/Was Indicated
10.0%
Discussion of the Causes of the Disorder
20.0%
Description of 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
20.0%
Analysis of the Gene Mutation of the Disease, as
Well as Whether It Is Acquired or Inherited, and
How the Mutation Occurs
20.0%
Organization and Effectiveness
20.0%
Thesis Development and Purpose
7.0%
Argument Logic and Construction
8.0%
Mechanics of Writing (includes spelling,
punctuation, grammar, language use)
5.0%
Format
10.0%
Paper Format (Use of appropriate style for the
major and assignment)
5.0%
Research Citations (In-text citations for
paraphrasing and direct quotes, and reference
page listing and formatting, as appropriate to
assignment and style)
5.0%
Total Weightage
100%
Case Report: Part 2
Unsatisfactory (0.00%)
Discussion of whether or not chromosomal analysis is/was
indicated is not present.
Discussion of the causes of the disorder is not present.
Description of 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 is not
presented.
Analysis of the gene mutation of the disease, as well as
whether it is acquired or inherited, and how the mutation
occurs is not presented.
Paper lacks any discernible overall purpose or organizing
claim.
Statement of purpose is not justified by the conclusion. The
conclusion does not support the claim made. Argument is
incoherent and uses noncredible sources.
Surface errors are pervasive enough that they impede
communication of meaning. Inappropriate word choice
and/or sentence construction are used.
Template is not used appropriately or documentation format
is rarely followed correctly.
No reference page is included. No citations are used.
50.0
Less Than Satisfactory (74.00%)
Discussion of whether or not chromosomal analysis is/was
indicated is present but incomplete.
Discussion of the causes of the disorder is present but
incomplete.
Description of 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 is
presented but incomplete.
Analysis of the gene mutation of the disease, as well as
whether it is acquired or inherited, and how the mutation
occurs is presented.
Discussion is incomplete.
Thesis and/or main claim are insufficiently developed and/or
vague; purpose is not clear.
Sufficient justification of claims is lacking. Argument lacks
consistent unity. There are obvious flaws in the logic. Some
sources have questionable credibility.
Frequent and repetitive mechanical errors distract the
reader. Inconsistencies in language choice (register), sentence
structure, and/or word choice are present.
Appropriate template is used, but some elements are missing
or mistaken. A lack of control with formatting is apparent.
Reference page is present. Citations are inconsistently used.
Satisfactory (79.00%)
Discussion of whether or not chromosomal analysis is/was
indicated is present but done at a perfunctory level.
Discussion of the causes of the disorder is present but done
at a perfunctory level.
Description of 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 is
presented but done at a perfunctory level.
Analysis of the gene mutation of the disease, as well as
whether it is acquired or inherited, and how the mutation
occurs is presented.
Discussion is done at a perfunctory
level.
Thesis and/or main claim are apparent and appropriate to
purpose.
Argument is orderly, but may have a few inconsistencies. The
argument presents minimal justification of claims. Argument
logically, but not thoroughly, supports the purpose. Sources
used are credible. Introduction and conclusion bracket the
thesis.
Some mechanical errors or typos are present, but are not
overly distracting to the reader. Correct sentence structure
and audience-appropriate language are used.
Appropriate template is used. Formatting is correct, although
some minor errors may be present.
Reference page is included and lists sources used in the
paper. Sources are appropriately documented, although
some errors may be present.
Good (87.00%)
Discussion of whether or not chromosomal analysis is/was
indicated is clearly present and convincing. Information
presented is from scholarly though dated sources.
Discussion of the causes of the disorder is clearly present and
convincing. Information presented is from scholarly though
dated sources.
Description of 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 is clearly
presented and convincing. Information presented is from
mostly current scholarly but some outdated sources are used.
Analysis of the gene mutation of the disease, as well as
whether it is acquired or inherited, and how the mutation
occurs is clearly presented.
Discussion is convincing.
Information presented is from mostly current scholarly but
some outdated sources are used.
Thesis and/or main claim are clear and forecast the
development of the paper. It is descriptive and reflective of
the arguments and appropriate to the purpose.
Argument shows logical progressions. Techniques of
argumentation are evident.
There is a smooth
progression of claims from introduction to conclusion. Most
sources are authoritative.
Prose is largely free of mechanical errors, although a few may
be present. A variety of sentence structures and effective
figures of speech are used.
Appropriate template is fully used. There are virtually no
errors in formatting style.
Reference page is present and fully inclusive of all cited
sources. Documentation is appropriate and citation style is
usually correct.
Excellent (100.00%)
Discussion of whether or not chromosomal analysis is/was
indicated is clearly present and insightful. Information
presented is from current scholarly sources.
Discussion of the causes of the disorder is clearly present and
insightful. Information presented is from current scholarly
sources.
Description of 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 is clearly
presented, insightful and detailed. Information presented is
from current scholarly sources.
Analysis of the gene mutation of the disease, as well as
whether it is acquired or inherited, and how the mutation
occurs is clearly presented.
Discussion is insightful and
detailed. Information presented is from current scholarly
sources.
Thesis and/or main claim are comprehensive. The essence of
the paper is contained within the thesis. Thesis statement
makes the purpose of the paper clear.
Clear and convincing argument that presents a persuasive
claim in a distinctive and compelling manner. All sources are
authoritative.
Comments
Writer is clearly in command of standard, written, academic
English.
All format elements are correct.
In-text citations and a reference page are complete and
correct. The documentation of cited sources is free of error.
Points Earned

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