For this paper, the writer will use Sickle Cell anemia to create this case report. The writer
will read carefully the instructions below before responding to all the questions. they are
two critical questions below that the writer will clearly respond to but most also
incorporate responses from other details in the order form below. The writer will also have
to use scholarly articles of not more than 5 years old.
You will be creating a case report in stages over four course topics. Use an example from
your own personal practice, experience, or own personal/family;( sickle cell anemia)
General Requirements:
Use the following information to ensure successful completion of the assignment:
� Doctoral learners are required to use APA style for their writing assignments.
� 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.
the writer cannot use sources which are more than 5 years old.
� You are required to submit this assignment to Turnitin and your similarity scores
cannot be more than 15%
Include the following:
� Guidelines and reasons behind the FDA regulations for introducing new pharmaceutical
agents (policy).
� The role that money and grants play in scientific advances; the economics of health care
(capitalism).
� The role and involvement family plays into the health care decision.
Directions:
For this assignment (Part 1 of the Case Report), write a 1,000-word paper incorporating
genetics information learned from assigned readings in Topics 1 and 2. Include the
following:
- Describe the disease, (sickle cell anemia) its prevalence, and its incidence.
- Discuss the laboratory testing that is possible.
Include the following:
� Guidelines and reasons behind the FDA regulations for introducing new pharmaceutical
agents (policy).
� The role that money and grants play in scientific advances; the economics of health care
(capitalism).
GENETICS-SICKLE CELL ANEMIA 2
� The role and involvement family plays into the hea
Sickle Cell Anemia
Sickle cell disease and its variants are very prevalent among the malaria-endemic areas
especially in Africa and the Mediterranean (Yawn et al., 2014). This disease may be fatal where
patients mostly thrive to early teens at which most deaths occur. In this study analysis of sickle
cell disease, its prevalence, incidence and laboratory testing have been done. Moreover,
guidelines and reasons behind FDA regulations for a new policy, economics of health care and
the role and family involvement in the healthcare decision are elaborated.
Sickle cell disease is an autosomal disorder, which causes red blood cell to acquire a
curved shape resembling a sickle thus their name. This disorder results from genetic inheritance
of defective hemoglobin genes from parents to children, where if both parents have recessive
genes for sickle cell, they will most probably pass on these genes to their offspring causing the
disorder (Yawn et al., 2014). The abnormally shaped hemoglobin diminishes the ability of red
blood cells to transport oxygen efficiently, for example, one might have difficulty in breathing or
doing a physical work due to chronic fatigue. In this condition, the hemoglobin present is called
S due to the mutation that results. This hemoglobin is very stable in the presence of hemolytic
agents and remains intact unlike the customarily shaped one, which lyses efficiently. The most
common signs and symptoms are acute and chronic aches at the feet, hands, back; universal
anemia; delay sexual maturity; growth retardation and respiratory problems (Yawn et al., 2014)
among others. Noteworthy is that one might have the sickle cell disorder but symptoms are only
experienced during a strenuous exercise (Yawn et al., 2014). The sickle-shaped cells have a high
likelihood of clogging the blood vessels and deterring blood circulation.
GENETICS-SICKLE CELL ANEMIA 3
The prevalence and incidences of sickle cell disease are recorded throughout the entire
globe, but it is common in sub-Saharan Africa and the Mediterranean region; also in the Spanish
speakers. The data on the prevalence and incidence of the defect in the US is not clear. However,
approximated data shows that 100, 000 Americans are affected. The occurrences indicate that 1
in every 365 African or African-American neonates has the disease, one in every 16, 300
Hispanic-American births has the disorder and one out of thirteen black or African-American
newborns has the sickle cell trait. Sickle cell disease is widespread among the common malaria
areas (Piel et al., 2013).
Some laboratory tests have been designed to test for sickle cell disease. These include both
blood tests and radiographic examinations. Among the blood-based tests are hemoglobin
solubility test, hemoglobin electrophoresis, pulmonary and liver function tests. The imaging tests
are chest X-ray, Magnetic resonance imaging (MRI) Computed tomography, abdominal
Ultrasonography, Nuclear medicine scanning and the Transcranial Doppler ultrasonography
(Yawn et al., 2014). The hemoglobin solubility test is carried out under the principle that the
abnormally curved Red blood cells are resistant to lyses and oxygenation. Therefore in their
deoxygenated states, they will remain intact after a reducing and a lysis agent such a saponin is
added while the normal red blood cells will tend to break down quickly. In solution, the defective
red blood cells will cause a suspension to form and collect as the top layer of the tube. The main
drawback in this test is that it is not possible to differentiate between sickle cell disease from the
sickle cell trait (Serjeant et al., 2013). To confirm the sickle cell condition type present one will
have to perform hemoglobin electrophoresis test. This test involves the use of electrical current
to influence the motility of the red blood cells. Since the different type of hemoglobin has
separate charges and speeds of movement along an electric field, it will be possible to identify
GENETICS-SICKLE CELL ANEMIA 4
their various types by the two characteristics. The quantity of each type of hemoglobin will be
determined. If the number of normal hemoglobin is below normal or there is the presence of
defective hemoglobin, then sickle cell disease is evident (Yawn et al., 2014). This test has proved
very useful as a prenatal test for parents, test to check health safety of athletes and test for the
neonates compulsory in the US. One might have defective hemoglobin without symptoms, but
this test provides information about this. Other tests that can be performed are the peripheral
blood smear and the liver function tests. On the imaging tests, MRI is usually done for timely
checking of the bone marrow changes which occur as a result of acute and chronic bone marrow
aplasia or necrosis. CT scan is also done when not possible to detect osteonecrosis through MRI
or as a more safe way for patients with hematuria to prevent medullary carcinoma. Nuclear
medicine scanning is useful when checking for early bone cell degeneration while trans-cranial
ultrasound identifies when there is an elevated risk for stroke. The abdominal ultrasonography is
instrumental in checking for biliary obstruction due.
FDA is an agency in the US, which was set and mandated to evaluate all consumer products in
the form of food and drugs for human safety and efficacy on the indicated potential uses. The
reason for its regulatory measure is primarily to ensure health safety of the public. According to
the FDA, drugs are either classified as New Drug Application (NDA) or Abbreviated New Drug
(AND) such as a generic drug. For the development of a new drug study using laboratory
animals is first done before humans are used to testing for the efficacy (Wu et al., 2016). The
FDA will involve a different agency to evaluate the quality and potential risks of the drug. The
drugs and other products require labeling on the uses of the product and the risks together with
mitigation measures in case risks (Origin, 2013).
GENETICS-SICKLE CELL ANEMIA 5
Although there are a lot of arguments in favor of capitalism to socialism, it is very accurate that
money and grants have been very instrumental in scientific researchers. Some say that capitalism
is more superior to socialism, but it has been evident that when organizations or people make
donations of money and give grants for studies in science. There are lots of people with
innovative ideas but lack funds to advance their reasoning. According to Stephan (2012) when
given money they improve the living standards of people for the general well being of the public.
For instance, the research on malaria in the sub-Saharan region has been made possible through
several grants. Funding research is very critical since funders will have an opportunity to monitor
the credibility of the studies done and the provided data.
Codes of conduct in health profession dictate that confidentiality should be practiced. However,
family needs to be involved in decision making regarding the health care of its members at times
especially when dealing with minors and the psychiatric and mentally incapacitated persons.
These people may not be able to make decisions on their own. It is also essential so that family
may be able to make an appropriate decision regarding insurance plan to undertake. Family
members can also provide palliative care in case of a lifelong disease like diabetes, cancer or
HIV/ AIDS (Bernabeo & Holmboe, 2013).
GENETICS-SICKLE CELL ANEMIA 6
References
Bernabeo, E., & Holmboe, E. S. (2013). Patients, providers, and systems need to acquire a
specific set of competencies to achieve truly patient-centered care. Health Affairs, 32(2),
250-258.
Chou, S. T., Jackson, T., Vege, S., Smith-Whitley, K., Friedman, D. F., & Westhoff, C. M.
(2013). High prevalence of red blood cell alloimmunization in sickle cell disease despite
transfusion from Rh-matched minority donors. Blood, 122(6), 1062-1071.
Origin, F. D. A. (2013). Functions.
Piel, F. B., Patil, A. P., Howes, R. E., Nyangiri, O. A., Gething, P. W., Dewi, M., … & Hay, S. I.
(2013). Global epidemiology of sickle haemoglobin in neonates: a contemporary
geostatistical model-based map and population estimates. The Lancet, 381(9861), 142-
151.
Serjeant, G. R. (2013). The natural history of sickle cell disease. Cold Spring Harbor
perspectives in medicine, 3(10), a011783.
Stephan, P. E. (2012). How economics shapes science (Vol. 1). Cambridge, MA: Harvard
University Press.
GENETICS-SICKLE CELL ANEMIA 7
Wu, P., Nielsen, T. E., & Clausen, M. H. (2016). Small-molecule kinase inhibitors: an analysis
of FDA-approved drugs. Drug Discovery Today, 21(1), 5-10.
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.
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