Writing Assignment: Sickle Cell Anemia 1

Writing Assignment: Sickle Cell Anemia

Olivia Rossbach
Biology 101- 101









Writing Assignment: Sickle Cell Anemia 2

Abstract
Sickle Cell Anemias mode of inheritance is auto recessive meaning a person with this disease must have
gotten two recessive alleles or genes that have mutations, one from each parent (Sickle Cell, 2014).
People with this disease have a low number of red blood cell which have been misshapen and broken
down too early (Sickle Cell, 2014). External indicators of this disease are yellowing of the eyes or skin
called jaundice (Sickle Cell, 2014). Effects can range from fatigue, high blood pressure, spleen
complications, or even heart failure causing death (Chen, 2013). Doctors diagnose the disease by
examining blood and checking for hemoglobin S (Learning About Sickle, 2011). Certain parts of India and
Pakistan have a higher frequency of this gene than the rest of the population (Prenatal Genetic
Counseling, 2004). In a study in India, 88 infants had a sickle cell anemia, 536 were carriers and 530 were
normal, which was the highest incidence in that caste group (Jain et al., 2012). This discovery could
cause medical professionals to pay more attention and have more interest in studying prevalence in
diseases in other countries who are less fortunate than the United States.











Writing Assignment: Sickle Cell Anemia 3

Mode of Inheritance
Sickle Cell Anemias mode of inheritance is auto recessive meaning a person with this disease
must have gotten two recessive alleles or genes that have mutations, one from each parent (Sickle
Cell, 2014). It is a blood disorder that affects hemoglobin, a molecule in red blood cells that delivers
oxygen to the body, distorting them into a sickle, or crescent shape (Sickle Cell, 2014). The abnormal
version of hemoglobin is called hemoglobin S (Chen, 2013).
Manifestations
Furthermore, this disease is an example of pleitrophy, which is when one gene influences many
characteristics. For example, manifestations and clinical features of Sickle Cell Anemia are present early
on internally and externally (Sickle Cell, 2014). Internally, people with this disease have a low number
of red blood cell which have been misshapen and broken down too early (Sickle Cell, 2014). These
cells are stiff and can get stuck in small blood vessels, depriving tissues and organs of oxygen, sometimes
causing pain, organ damage and high blood pressure (Sickle Cell, 2014). External indicators of this
disease are yellowing of the eyes or skin called jaundice (Sickle Cell, 2014).
These symptoms and complications of sick cell anemia greatly vary depending on if the
abnormal hemoglobin cells get stuck in blood vessels (Chen, 2013). Effects can range from fatigue, high
blood pressure, spleen complications, or even heart failure causing death (Chen, 2013). With this
disorder a person would luckily live to their 20s in areas like Africa where treatment facilities are poor
and information is unknown, but presently people generally can live up to their 50s or beyond (Chen,
2013). In addition, if a person has this disease and is able to have children the different probabilities that
this disorder will be passed on to their child can be seen through Punnett Squares I retrieved from
ctbiobus.org.
Writing Assignment: Sickle Cell Anemia 4

1) Mom is normal (AA) Dad has the disease (SS)
A A There is a 100% chance the child will
S be a carrier (AS)
S

2) Mom is normal (AA) Dad is a carrier (AS)
A A There is a 50% chance the child will be
A normal (AA) and a 50% chance the child will
be a carrier (AS)
S

3) Mom and Dad are both carriers (AS)

A S There is a 50% chance the child will be a
A carrier (AS), a 25% chance the
child will be normal (AA), and a 25% the

S child will have the disease (SS)

AS AS
AS AS
AA AA
AS AS
AA

AS

AS SS
Writing Assignment: Sickle Cell Anemia 5

4) Mom has the disease (SS) Dad is a carrier (AS)
S S
There is a 50% chance the child
A will be a carrier (AS) and a 50% chance the
child will have the disease (SS)

S

Moral Issues
Some major moral issues regarding early identification testing for sickle cell anemia is
information from testing being withheld and also providing informed consent to ensure privacy of the
patient (Miller, Hayeems & Robert, 2009). Additionally, there are different types of genetic testing
available, for example fetal blood tests done early on in pregnancy. Doctors diagnose the disease by
examining blood and checking for hemoglobin S, the abnormal form of hemoglobin that causes the
disease as well as looking under a microscope at blood cell shape to confirm the disease (Learning About
Sickle, 2011). Newborn screening for sickle cell disease is now done in all states. A blood spot from a
prick on a babys heel is used to screen for a number of different genetic conditions. The initial newborn
screening test determines the amount of normal hemoglobin in the blood spot.
Furthermore, other technology available for screening is through ultrasound which pregnant
women receive at their primary doctors. Genetic testing can do more harm than good for example, a
woman who finds out that she carries genes for sickle cell disease will not be able to do anything to
control the development of the disease, and at the same time may end up feeling more worried than
AS

AS

SS SS
Writing Assignment: Sickle Cell Anemia 6

ever, never knowing when the first symptoms will occur. She may also feel helpless. Some ethical issues
that may result from testing and finding out your child has an unwanted disease would be the decision
of adoption or abortion.
Certain cultures or races are predisposed to having the disease for example, approximately 1 in
10 African Americans carries a single copy of the sickle cell gene, making that person a carrier of the
genetic defect while not having the disease itself (Prenatal Genetic Counseling, 2004). People of
Hispanic, Central American, Greek, Italian, Arabic, Cuban, Puerto Rican, and Haitian descent also have a
higher frequency of this gene than the rest of the population, as do people from certain parts of India
and Pakistan (Prenatal Genetic Counseling, 2004).
Article Critique
In correlation, Dipty Jain, Vijaya Sarathi, Dipty Upadhye, Rohini Gulhane, Anita Nadkarni,
Kanjaksha Ghosh and Roshan Colah, the authors of my article, did a study on newborn screening and the
high incidence of sickle cell anemia in Central India. These authoritative authors carry credentials such as
backgrounds from the Department of Pediatrics, Government Medical College, India National Institute
of Immunohematology and King Edward Memorial Hospital Campus. I also believe this is a credible
article because it came from Chesapeake Colleges library database Medline.
The articles purpose was to increase research about the high incidence of the disease in India.
Previously it was believed that the disease was mostly found in tribal communities, however research
showed that over 330,000 infants, or 83% are born with the disease annually (Jain et al., 2012). Early
diagnosis and identification can minimize the risk of getting the disease, increase life expectancy and
decrease morbidity (Jain et al., 2012). The most common screenings used to detect the disease are high
performance liquid chromatography, isoelectric focusing or electrophoresis, however, there are no
newborn screening tests available in India because of cost (Jain et al., 2012).
Writing Assignment: Sickle Cell Anemia 7

Mothers in the study were tested 48 hours after delivery and a blood sample from the baby was
collected by a heel prick within the childs first 7 days of life to examine hemoglobin (Jain et al., 2012).
Over 2 years, 1178 of the mothers were tested positive and 7065 were negative (Jain et al., 2012). In
addition, of those positive mothers, 88 infants had a sickle cell anemia, 536 were carriers and 530 were
normal, which was the highest incidence in that caste group (Jain et al., 2012). Other tribes had higher
incidences however in Muslim and Hindu religions there was not a single sickle cell case found (Jain et
al., 2012).
This discovery is very important and can hopefully start providing other countries like India with
beneficial screening to test for sickle cell anemia. This discovery could cause medical professionals to
pay more attention and have more interest in studying prevalence in diseases in other countries who
are less fortunate than the United States. This study can benefit society as a whole, not only people with
this disorder, because it can encourage people to help others when getting tested or treated for a
disease. Social dilemmas raised by the research could be that India does not have the same
opportunities as other countries when regarding testing and the cost of proper, in depth screening that
could cause even more early detection of infants with sickle cell anemia. These concerns could become
possible future dilemmas that could arise with future testing. The authors considered other viewpoints
because they did other studies on arrears, castes and religions surrounding India and these were also
explained in the article.




Writing Assignment: Sickle Cell Anemia 8

References
Chen, Y.-B. (2013, February 26). Sickle Cell Anemia. Retrieved April 7, 2014,
from Medline Plus website: http://www.nlm.nih.gov/medlineplus/ency/article/
000527.htm
Jain, D. L., Sarathi, V., Upadhye, D., Gulhane, R., Nadkarni, A. H., Ghosh, K., & Colah, R. B. (2012).
Newborn Screening Shows a High Incidence of Sickle Cell Anemia in Central India. Hemoglobin,
36(4), 316-322. doi:10.3109/03630269.2012.691434
Learning About Sickle Cell Disease. (2011, October 25). Retrieved April 10,
2014, from National Human Genome Research Institute website:
https://www.genome.gov/10001219\
McNellis, D.(2006). Prenatal diagnosis. In McGraw-Hill concise encyclopedia of science and technology.
Retrieved from
http://ccproxy.idm.oclc.org//login?qurl=http%3A%2F%2Fsearch.credoreference.com%2Fconte
t%2Fentry%2Fconscitech%2Fprenatal_diagnosis%2F0
Miller, F. A., PhD., Hayeems, R. Z., PhD., & Robert, J. S., PhD. (2009). CARRIER DETECTION AND CLINICAL
UNCERTAINTY: THE CASE FOR PUBLIC HEALTH ETHICS. American Journal of Public Health, 99(8),
1349-50. Retrieved from http://search.proquest.com/docview/215087337?accountid=10071
Prenatal genetic counseling. (2004). In New Harvard guide to women's health, the. Retrieved from
http://ccproxy.idm.oclc.org//login?qurl=http%3A%2F%2Fsearch.credoreference.com%2Fconte
t%2Fentry%2Fhupwh%2Fprenatal_genetic_counseling%2F0
Writing Assignment: Sickle Cell Anemia 9

Punnett Squares. (2008). Retrieved April 14, 2014, from Conneticuts Bio Bus
Educational Program website: http://www.ctbiobus.org/download/punnet.pdf
Sickle Cell Disease. (2014, March 31). Retrieved April 7, 2014, from Genetics
Home Reference website: http://ghr.nlm.nih.gov/condition/
sickle-cell-disease