Description
Genetic Disorder Paper: Instructions
The paper is a summary of information related to a genetic disorder. Each student will select a disorder that interests them. (Please sign up for the disorder that you want to present on the Sign Up Sheet in Laulima. Please do not select the same disorder as someone else).
The paper will present summarized information (in bulleted text format) for the following categories: etiology, pathogenesis, “red flags” that lead to diagnosis, clinical manifestations, treatments, nursing implications, and current clinical trials.
Nursing implications could address aspects of healthcare management, education issues, advocacy issues, and referrals. Avoid exhaustive lists, provide the most important concepts and topics.
Guidance for the paper is provided, as well as a template and rubric, in Laulima. The written summary is no longer than 5 pages with 1 page for references, for a total of 6 pages, double- spaced using bulleted text. This means that you must be judicious with the information that you will present but you should be able to present the most important information related to the disorder within these parameters.
Clinical Presentation:
Disease etiology (mutation type and location, incidence, allele frequency in different populations, pedigree of inheritance pattern)
Typical clinical presentation (“red flags”, onset of symptoms, first symptoms, classical signs, natural history of the disease progression)
Diagnostic method (What is the method used to identify the mutation or confirm diagnosis?)
Pathogenesis of the disorder (What is the pathophysiology caused by the mutation?)
Nursing Implications related to:
Healthcare management- (medical, psychosocial)
Patient education issues
Guidance for clinical trials (Give an overview of the types of current clinical trials available. Do not give an exhaustive list)
Referrals, access to genetic technologies
Advocacy groups and issues
Ethical, legal, social issues
Avoid exhaustive lists, provide the most important concepts and topics.
References and Presentation
No more than 1 page of references in APA format
Unformatted Attachment Preview
Genetic Disorder Paper: Instructions
The paper is a summary of information related to a genetic disorder. Each student will select a
disorder that interests them. (Please sign up for the disorder that you want to present on the Sign
Up Sheet in Laulima. Please do not select the same disorder as someone else).
The paper will present summarized information (in bulleted text format) for the following
categories: etiology, pathogenesis, “red flags” that lead to diagnosis, clinical manifestations,
treatments, nursing implications, and current clinical trials.
Nursing implications could address aspects of healthcare management, education issues,
advocacy issues, and referrals. Avoid exhaustive lists, provide the most important concepts and
topics.
Guidance for the paper is provided, as well as a template and rubric, in Laulima. The written
summary is no longer than 5 pages with 1 page for references, for a total of 6 pages,
double- spaced using bulleted text. This means that you must be judicious with the information
that you will present but you should be able to present the most important information related to
the disorder within these parameters.
Clinical Presentation:
•
Disease etiology (mutation type and location, incidence, allele frequency in different
populations, pedigree of inheritance pattern)
• Typical clinical presentation (“red flags”, onset of symptoms, first symptoms, classical
signs, natural history of the disease progression)
• Diagnostic method (What is the method used to identify the mutation or confirm
diagnosis?)
• Pathogenesis of the disorder (What is the pathophysiology caused by the mutation?)
Nursing Implications related to:
•
•
•
Healthcare management- (medical, psychosocial)
Patient education issues
Guidance for clinical trials (Give an overview of the types of current clinical trials
available. Do not give an exhaustive list)
• Referrals, access to genetic technologies
• Advocacy groups and issues
• Ethical, legal, social issues
Avoid exhaustive lists, provide the most important concepts and topics.
References and Presentation
•
•
No more than 1 page of references in APA format
Current (within 7 years, relevant, and credible -do not use Wikapedia)
Title of the Disorder
Disease Etiology
● This trait is caused by a point mutation in the hemoglobin beta gene (HBB) on chromosome
11.
o One of the bases in the DNA sequence is changed from adenine to thymine. The amino
acid that is coded changes from glutamic acid to valine, which leads to a faulty
hemoglobin protein, HbS, rather than HbA.
o HbS causes the red blood cells to develop in a sickle shape, rather than a donut shape,
which makes them harder and less flexible. Sickle red blood cells tend to become stuck
in the blood vessels, causing blockages.
o The autosomal recessive genetic disease that results from these changes is called sickle
cell anemia
● Sickle cell anemia (SCA) affects about 100,000 people in the United States and is life-altering.
Pathophysiology of Sickle Cell Anemia (Hazel)
● Sickle cell red blood cells are poor oxygen carriers due to its mutation
● The cell structure is affected by the mutation and causes the red blood cell to be crescent
shaped, stiff, and sticky
● Sickle red blood cells can cause blockage in blood vessels which can result in pain due to
blockage of blood vessels, tissue hypoxia, poor perfusion, and may cause tissue death
● Body attempts to compensate by destroying RBC through the spleen which causes hemolytic
anemia
● Vaso-oclusive events are caused by strenuous exercise, hypoxia, dehydration, emotional stress,
infection
● Sickle cell crises are severe episodes of vaso-oclusive events that occur from time to time.
During this time, they will need to be hospitalized to help manage symptoms of sickle cell
crises
● People with sickle cell disease are at risk for long term damage to their tissues or organ failure
due to the long-term effects of vaso-occlusive events over time.
Typical Clinical Presentation (Blessie)
● When sickle red blood cells become stuck in blood vessels, people with sickle cell
disease experience fatigue from decreased oxygen distribution to the body.
● They experience swelling in their hands and feet from decreased blood circulation to
these areas.
● A shortage of healthy red blood cells slows the growth in infants and children, and delays
puberty in teenagers.
● Sickled red blood cells damage the spleen; and since the spleen oversees fighting
infection, people with SCA are vulnerable to infections.
● The worst thing that can happen is a sickle cell crisis, when sickle red blood cells block
the flow through tiny blood vessels to a person’s brain, chest, abdomen, and joints.
o The pain can last from a few hours to a few days, and severe cases warrant
hospital admission.
● A blockage in blood vessels in the brain can lead to a stroke.
● A blockage in blood vessels in the lungs can lead to acute chest syndrome and pulmonary
hypertension.
Diagnostic Methods for SCA (Jennifer):
● Blood tests: A complete blood count (CBC) that includes a mean corpuscular volume
(MCV) and hemoglobin electrophoresis or high-performance liquid chromatography
(HPLC) can detect abnormal hemoglobin and hemoglobin type.
● Newborn screening: Since 2006 screening for SCD has been included in routine newborn
screenings in all 50 states.
● Prenatal screening: SCD can also be checked for during prenatal testing with chorionic
villus sampling tests or amniocentesis.
● Genetic testing: can be used to confirm a diagnosis or to determine if a person carries one
or two copies of the sickle cell gene.
Healthcare Management for SCA (Jennifer):
● Management of sickle anemia is focused on prevention and treatment of acute and
chronic complications.
● Early diagnosis and prompt initiation of treatment plans can improve the quality of life
and life expectancy of SCA patients.
● It is possible to cure SCA with allogeneic hematopoietic stem cell transplantation
(HSCT). However, HSCT can be high-risk, only available in high-income countries, and
difficult to find a properly matching donor
Infection prevention/treatment:
o Prevention and aggressive treatment of infection are vital. Daily prophylactic
penicillin should be started as soon as possible after birth to at least 5 years of
age.
o Patients should stay current with vaccinations, including pneumococcal and
annual flu vaccines.
o Patient education: good hand and food hygiene, healthy habits (avoid smoking/
alcohol, manage stress, balanced diet) , staying well-hydrated , Lifestyle
behaviors (avoid extreme temperatures, high altitudes, low O2 situations
Medications:
o Hydroxyurea- can decrease complications of SCD.
o Crizanlizumab- can help reduce the frequency of vaso-occlusive crises (VOCs)
o Voxelotor- prevents the sickling of red blood cells
o L-glutamine- more research is needed, can reduce the number of SCD pain crises.
o Pain medications – OTC and/or opioid
Integrative, comprehensive care with routine screenings:
o Transcranial Doppler ultrasounds (TCD)- should be done routinely on children to
check for stroke risk
o Regularly scheduled lab work- check for anemia; monitor renal, pulmonary, and
hepatic function
o Annual eye exams
Blood transfusions: *risk of alloimmunization and iron overload
o Can be used to treat acute or chronic SCA complications
o Stroke prevention
Nursing implications in the healthcare management of SCA (Jennifer):
● Pain management: Detailed pain assessments; administer pain medications; provide
comfort care (warm packs, positioning); education/guidance on nonpharmacological pain
interventions (distraction, deep breathing, relaxation techniques) and
complementary/alternative therapies (acupuncture, meditation, etc.).
● Infection prevention/management: Closely monitor vital signs, promptly report fevers to
PCP, and administer antibiotics as ordered.
● Patient education: Should be thorough and ongoing, age and comprehension-level
appropriate.
● Psychosocial complications: Depression and anxiety are common in SCA pts; complete
thorough assessments; work on increasing coping skills; referrals to support groups,
social services, or psychological therapies as needed.
● For male patients: Education on priapism and when to seek treatment.
● Be aware of racial and health disparities that exist and that are often experienced by SCA
patients: SCA is most suffered by minority groups, and this condition can highlight racial
and healthcare disparities that exist; be cognizant of any bias (conscious or unconscious),
help advocate and actively work toward healthcare equity and equality for these patients.
Referrals (Irwin)
● Sickle cell anemia is usually diagnosed and screened at an early age through genetic
testing of a newborn. family is referred to a hematologist. A hematologist is an internal
medicine doctor specializes and is trained in recognizing blood disorders.
● A genetic counselor specializes in genetic disorders. Based on genetic findings, the
person with sickle cell disease or trait would then decide whether to pursue to have
children.
Genetic technologies (Irwin)
● Blood transfusions decrease complications by increasing “non-sickle red blood cells
(RBCs) that correct severe anemia from hemolysis and decrease sickle hemoglobin
containing RBCs.
● Modifying agents
o Hydroxyurea is a drug that protects against the sickle hemoglobin by increasing
fetal hemoglobin production of the fetus during gestation, recommended
prevention for vaso-occlusive pain event.
● Hematopoietic stem cell transplant is used to cure sickle cell anemia. Increasing
mortality if attempting hematopoietic stem cell transplant at a later age. Difficult to find
matches.
● Human gene therapy modifies gene expression by removing or editing a gene.
o Clustered regularly interspaced short palindromic repeats and Crisper associated
protein-9 (CRISPR-Cas9) is a gene editing.
Ethical, Legal, and Social Issues (Irwin)
● Safety.
o Prenatal diagnosis
▪
Is it safe and will it prevent miscarriage while obtaining it through
amniocentesis or chorionic villus sampling.
▪
Whose right is it to have an abortion if sickle cell genotype or trait is
found in the fetus.
▪
Proponents feel that it empowers them to prepare for the unborn fetus if
they decide to keep the baby.
● Blood transfusion
o Forcing a Jehovah witness minor with blood transfusion without consent from the
parents. Providers use the legal court system to override parents’ decision to not
transfuse blood to their child.
● Increasing school absents due to chronic pain and fatigue.
● Social Isolation
o Parents who feel guilt while caring for their sickle cell disease child end up not
participating in community gatherings
● Social stigma of being of having drug seeking behaviors
o Frequent admission due to misdiagnosis or poor pain management by providers
who may not be familiar with the disease.
Patient and Family Education Issues (Hazel)
● Patients experiencing severe pain and fatigue will not be as receptive to patient education
unless pain and fatigue are appropriately managed
● Nurse can offer pain medication for severe pain such as opioids or nonpharmacologic pain
relief methods such as guided imagery, gentle massage, yoga, or transcutaneous nerve
stimulation
● Fatigue is likely related to anemia
● Encourage rest, fluids, and a well-balanced diet to help fatigue
● Family education issues include stress, anxiety, and feeling overwhelmed with treatment
course of disease
● Nurses should offer support and additional resources such as family support groups
Guidance for Clinical Trials (Evan)
● This new treatment will allow patients with sickle cell disease to use their own genetic
material to help treat this illness.
● Stem cells from the patient are harvested, modified genetically, then reintroduced into the
person’s body for treatment.
● Cells involved with this treatment include harvesting CD34+ cells from bone marrow and
then modified to target BCL11a cells which increase hemoglobin levels.
o In theory, this would decrease the amount of sickle cells in the body and increase
hemoglobin from transplanted stem cells. Then to help influence of a transgene.
● Benefits of this new therapy:
o Reduces rejection of cells
o Eliminates need for donor
o Reduces need for chemotherapy (A strong medications for pediatric patients)
o Reduces need for medications to reduce graft rejection (Another strong
medication for pediatric patients).
● This study will be done by Boston Children Hospital and serve as a pilot study for those
with sickle cell anemia. Started in February 13, 2018. Set to end: November 13, 2024.
Advocacy Groups and Issues (Evan)
Issues with those facing Sickle Cell Anemia
● Lack of education
o To families, patients, community and caregivers
o When to see a doctor
o How to safely treat pain, and treatments for patients.
● Complications associated with disease
● Advocacy for research
● Solutions to disease prevention/treatment
● Family/genetic planning
Sickle Cell Consortium
● A U.S non-profit organization
o Based in Atlanta, Georgia.
o Meets once a year to advocate for issues for patients and families experiencing
SCD.
● Patients and caregiver’s advocacy
o Helps bridge gaps within the community
o Develop solutions for SCD, current research and future clinical trial research.
o Adress problems associated with SCD
o Education about SCD
o Support for patients and families
Centers for Disease Control and Prevention
● National Advocacy of issues associated with SCD
o Addresses treatments for complications associated with SCD
o Education for patients, families, caregivers and community
o Family Planning
o Gene therapy education
o Clinical practice guidelines for patients, families, and clinicians.
NIH
● Helps link patients, caregivers, and clinicians to community groups
● Link in power point lists community resources for SCD by U.S. state.
o States with a higher population of SCD are listed.
▪
States like Hawaii are not included in the listing.
References
Center for Biologics Evaluation and Research. (n.d.). What is gene therapy? U.S. Food and Drug
Administration. https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapyproducts/what-gene-therapy
Centers for Disease Control and Prevention. (2019, May 15). Get screened to know your sickle
cell status.
https://www.cdc.gov/ncbddd/sicklecell/documents/factsheet_scicklecell_status.pdf
Centers for Disease Control and Prevention. (2022, August 18). What is sickle cell disease?
Centers for Disease Control and Prevention.
https://www.cdc.gov/ncbddd/sicklecell/facts.html
Centers for Disease Control and Prevention. (2022, September 29). Information for families
about sickle cell disease. https://www.cdc.gov/ncbddd/sicklecell/families.html
Fadare, J. O. (2011). Some ethical issues in the prenatal diagnosis of sickle cell anaemia. Annals
of Ibadan Postgraduate Medicine, 7(2). https://doi.org/10.4314/aipm.v7i2.64084
Heimgartner, N. M., Ignatavicius, D. D., Rebar, C. R., & Workman, M. L. (2018). Medicalsurgical nursing: concepts for interprofessional collaborative care. Elsevier.
Kato, G. J., Piel, F. B., Reid, C. D., Gaston, M. H., Ohene-Frempong, K., Krishnamurti, L.,
Smith, W. R., Panepinto, J. A., Weatherall, D. J., Costa, F. F., & Vichinsky, E. P. (2018,
March 15). Sickle cell disease. Nature News.
https://www.nature.com/articles/nrdp201810
Lee L, Smith-Whitley K, Banks S, Puckrein G. Reducing Health Care Disparities in Sickle Cell
Disease: A Review. Public Health Reports. 2019;134(6):599-607.
doi:10.1177/0033354919881438
Leger, R. R., Wagner, L. D., & Odesina, V. (2018, June 27). Stigma in adults with sickle cell
disease and family members: Scale development and pilot study in the USA and Nigeria.
International Journal of Africa Nursing Sciences, 9, 23-29.
https://doi.org/10.1016/j.ijans.2018.06.003
Mayo Foundation for Medical Education and Research. (2022, March 9). Sickle cell anemia.
Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/sickle-cellanemia/symptoms-causes/syc-20355876
National Heart Lung and Blood Institute, NHLBI, NIH. (2022, July 15). Treatment. Sickle Cell
Disease- Treatment. https://www.nhlbi.nih.gov/health/sickle-cell-disease/treatment
National Library of Medicine. (2020). Appendix k sickle cell community-based organizations and
patient groups in the united states. https://www.ncbi.nlm.nih.gov/books/NBK566479/
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https://www.ncbi.nlm.nih.gov/books/NBK566466/
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https://sicklecellanemianews.com/columns/fatigue-red-blood-cells-balanced-diet-sleeproutine-hydration/
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CRISPR to correct genetic defect causing sickle cell disease. Berkeley News.
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