Sickle cell disease is an inherited blood disorder that causes red blood cells to become rigid and form an abnormal, sickle shape. It affects millions worldwide, particularly those with African, Mediterranean, Middle Eastern, or Latin American ancestry. The disease causes less oxygenated blood flow and damage to tissues and organs over time. Common symptoms include pain crises, infections, and lung problems. While there is no cure, treatments focus on managing complications and symptoms through medications, transfusions, and in some cases, stem cell transplants.
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Sickle Cell Disease Research
1. Sickle Cell Disease Research Paper
What is sickle cell disease?
Sickle cell diseases are inherited blood disorders that affect mostly African Americans about 70,000
people in the United States. The studies shows approximately 2 million Americans have the sickle
cell trait. The sickle cell trait occurs in about 1 in 12 African Americans and sickle cell disease
affects millions of people worldwide. The rate for sickle cell disease or sickle cell trait is higher in
people who live in Africa, South or Central America, the Caribbean islands, Mediterranean
countries, India, and Saudi Arabia.
I have done my research on sickle cell disease throughout the paper; I will distinguish the difference
between sickle cell disease and sickle trait, the stages of sickle cell disease during childhood, ...
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By early adulthood, growth catches up with their normal height, and weight remains below average.
Children with sickle cell disease have elevated risk of having a stroke that is one of the most
concerning of sickle cell disease. Approximately 11% of individuals with sickle cell disease will
have a stroke by the age of 20. Magnetic resonance imaging studies have found that 17% of children
with sickle cell disease will have a previous stroke or stroke–like events called transient ischemic
events. Stroke in sickle cell disease is usually caused by blockage of a blood vessel but about one
fourth of the time may be caused by hemorrhage or rupture of a blood vessel.
Can sickle cell disease cause death?
Acute chest syndrome (ACS) is a leading cause of death for individuals with sickle cell disease, and
attacks that can lead to permanent lung damage. Therefore, rapid diagnosis and treatment is very
important. ACS can occur at any age and is distinct from pneumonia. Affected persons may
experience fever, cough, chest pain, and shortness of breath. ACS seems to have multiple causes
including infection, sickling in the small blood vessels of the lungs.
In
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2.
3. The Death Of Sickle Cell Disease
The purpose of this essay it to determine whether or not Jonathon Jackson, a 30 year old air traffic
controller whom has been faithful to his company and job for over eight years that has recently
discovered he has sickle cell anemia, should be dismissed from his job regarding his genetic test
results. Sickle cell anaemia is the most severe form of sickle cell disease and is a genetic disease of
the red blood cells (Gibbons, 2015). Red blood cells have a disk like form which allows them the
ability to travel through blood vessels. Although in people with sickle cell, the red blood cells form
an abnormal crescent shape which makes them rigid and sticky as shown in Diagram 3 below. This
causes the sickled cells to get trapped in small vessels which blocks blood from reaching different
parts of the body leading to pain, tissue damage and many more symptoms (University of Utah,
2015). The term anaemia comes from having a shortage of red blood cells in your blood which
occurs because sickled cells only last up to 10– 20 days while normal red blood cells last
approximately 120 days. The name 'sickle' comes from an old farm tool known as a sickle as shown
in Diagram 4 below which represents the same shape as curved sickled cells (Petch, 2012). Sickle
cell disease affects millions of people worldwide and is most common in those who have ancestors
from Africa, the Mediterranean, The Arabian Peninsula and Spanish speaking areas in South
America. People with sickle cell anaemia on
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4.
5. Sickle Cell Anemia And The Disease
Sickle Cell Anemia LaToya R Walker American Public University Systems Abstract This paper will
discuss Sickle Cell Anemia. It will describe what the disease is as well as how its contracted. The
paper will go on to on to discuss the symtoms risk and statistics of sickle cell aniema. The paper will
end with discussing treatment for the disease. Sickle Cell Anemia Sickle Cell Anemia or Sickle Cell
Disease (SCD) is a passed down blood disorder that attacks and destroys the red blood cells. This
Disease was first discovered back in 1910. The disease was first described as a clinical entity by
Herrick1 in 1910 (Anderson & Ware 1932). Sickle cell sickness is brought about by a change in the
hemoglobin–Beta quality found on chromosome 11. Hemoglobin transports oxygen from the lungs
to different parts of the body. Red platelets with typical (hemoglobin–An) are smooth and round and
coast through veins. Typical red platelets are round like doughnuts, and they travel through little
blood tubes in the body to convey oxygen. Sickle red platelets turn out to be hard, sticky and molded
like sickles used to cut wheat. At times these blood cells can become crescent shaped and have a
hard time passing through small blood vessels, this keeps red blood cells and the oxygen they carry
from getting to all parts of the body. This causes less blood to reach the body at this point the tissues
that have not received a normal blood flow will become damaged. Individuals who have sickle cell
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6.
7. Sickle Cell Disease (SCD)
Sickle cell disease (SCD) is an inherited and noncontagious, lifelong condition. More specifically,
per Ohaeri, Shokunbi, Akinlade, & Dare, 1995, SCD is a generic term for a group of genetic
disorders characterized by the predominance of sickle cell hemoglobin (Hgb). Hemoglobin is a
protein in the red blood cells that carries oxygen throughout the body. The disease produces
significantly abnormal Hgb molecules in red blood cells (RBCs). In sickle cell anemia, the red blood
cells become rigid and sticky and are shaped like sickles or crescent moons. These irregularly
shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to
parts of the body (Ohaeri, Shokunbi, Akinlade, & Dare, 1995, p. 955.Individuals ... Show more
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Per a Health Disparities Work Group of the American Academy of Physician Assistants (AAPA), a
simple blood test can show whether a person has sickle cell disease (Sickle cell disease, 2012, p.2).
Infants screening is mandated in the United States before newborn go home from the hospital.
Therefore, patients who present with SCD are typically aware of their diagnosis. However, although
SCD is present at birth, most infants do not have any problems from the disease until they are about
5 or 6 months of age. SCD results in early childhood death if left untreated (Sickle cell disease,
2012, p.2). Recommended screening tests, noted in Sickle cell disease, 2012, and Paul, Castro,
Aggarwal, & Oneal 1995, include hemoglobin electrophoresis, isoelectric focusing, high–
performance liquid chromatography or DNA analysis (p. 2 and p. 34). Some of the improvement in
survival in sickle–cell disease over the past few decades have been attributed to neonatal screening,
facilitating early access to prophylaxis with penicillin, comprehensive care, and parental education
on the early detection of complications such as acute splenic sequestration (Sickle cell disease,
2012,
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8.
9. Causes Of Sickle Cell Disease
Sickle cell disease is a hereditary blood disorder most common in the African American community.
Many people are carriers of the sickle cell trait, however in order for a person to develop sickle cell
disease both parents must have passed on the trait to their child. Sickle cell disease causes a
mutation in normal red blood cells resulting in decreased tissue perfusion and organ damage. This
causes partial or complete replacement of normal hemoglobin with abnormal shaped sickled cells.
An abnormal shaped sickled cell may become lodged to a blood vessel where other cells then bind
to it and begin to form a clump. The blood vessels continually attach to each other and result in a
blockage of small blood vessels eventually resulting in organ ... Show more content on
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The short life span of RBCs and the damage they cause to tissues can result in the following signs
and symptoms: severe abdominal pain, priapism, tissue engorgement, painful swelling of joints and
feet, fever, shock, profound anemia, and hypovolemia. Many organs can be affected to include the
brain, eyes, bones, liver, spleen, kidneys, penis, extremities, and skin (Ball, J., & Bindler, R., 2015).
Pain from sickle cell crises is the most common reasons for hospitalization in children with sickle
cell disease. Pain typically affects the joints, chest, back and abdomen. Children may also
experience acute chest syndrome (ACS), a life threatening complication requiring hospitalization.
ACS is characterized by chest pain, fever, tachypnea, cough, shortness of breath, crackles and
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10.
11. Sickle Of Sickle Cell Disease
Sickle Cell Disease Sickle Cell Disease or also widely known as Sickle Cell Anemia is a genetic
mutation caused in red blood cells destroys its own cells within and reshaping the cell wall
resembling crescent or sickle shape; getting its name of the sickle cell disease. These sickled shaped
cells attempt to perform its normal function of circulating oxygenated and deoxygenated RBC and
gets lodged in small vessels causing vaso–occlusion. Where vaso–occlusive take effect, rest of the
body is not receiving oxygen becoming oxygen deprived results in acute and chronic pain and organ
damage (Valerie Mann–Jiles, 2015). This disease a lifelong condition affecting not just the person
carrying the disease but the whole family. Treating this disease ... Show more content on
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Resulting in lack of blood flow to the region most commonly in the peripherals and organs causing
pain in hands, feet, joints, fever and in severe forms develops in bones (Smeltzer, Bare, Hinkle, &
Cheever, 2010). Sickle cell anemia is the most severe form of SCD, lesser forms include sickle cell
hemoglobin C disease, sickle cell hemoglobin D disease, and sickle cell beta–thalassemia.
(Smeltzer, Bare, Hinkle, & Cheever, 2010). . The term sickle cell trait is referred to people who are
carriers of certain strand of abnormal gene, and it is a type of benign state of sickle cell hemoglobin
C (Smeltzer, Bare, Hinkle, & Cheever, 2010). Though, if two people with the same traits may have
child, the child will have a 1 in 4th chance of receiving two abnormal genes will develop sickle cell
anemia (Smeltzer, Bare, Hinkle, & Cheever, 2010).
Clinical Manifestation
References
References
Doenges, M. E., Moorhoouse, M., & Murr, A. C. (2012). Nurse 's Pocket Guide. Philadelphia: F.A
Davis Company.
J. Kelly Graves, C. H. (2016). Depression, Anxiety, and Quality of Life In Children and Adolescents
With Sickle Cell Disease. Continuing Nursing Education.
Joyce Kelly Graves, P. R. (2014). Pain, Coping, and Sleep in Children and Adolescents With Sickle
Cell Disease. Journal of Child & Adolescent Psychiatric Nursing.
Khaled Hadeed, M. S.–P. (2015). Endothelial Function and Vascular
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12.
13. Sickle Cell Disease History
History
In the 1900's, Cardiologist Dr. James B. Herrick referred his patient, Walter Clement Noel, to Dr.
Ernest Irons. The reason for referral was due to Noel's complaints of pain episodes, followed by
presenting symptoms of anemia. (Winter). Dr. Irons, an intern who worked for Herrick, observed
Noel's red blood cells under a microscope and saw that they were sickle shaped (Winter).
Overview
In 1972, Dr. James V. Neel, chairman and founder of the Department of Human Genetics at the
University of Michigan, created the first center of sickle cell disease (Winter). Sickle Cell
Disease(SCD) is an inherited red blood cell disorder that causes the cells to be sickle in shape due to
the mutation of the hemoglobin gene (Winter). People with SCD ... Show more content on
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and Mrs. Orca had four children. Their first son, Ricky, passed away at the age of 16. He had the
HgbAS gene. He was hospitalized for a swollen abdomen and severe pain. What led to his death was
refusal for a blood transfusion due to religious reasons. Benji, the Orca's second son, was diagnosed
with SCD in infancy. He presented with symptoms of swollen hands and feet. The family also had
two daughters named Kala and Dana. The parents said that Kala gets occasional pains in her body
and the whites of her eyes would turn yellow. This is when they found out that Kala was diagnosed
with SCD (HgbSS). Dana hasn't complained of any symptoms, but carries the SCD trait, HbgAS.
Mrs. Orca is currently pregnant with her fifth child. Mr. Orca believes that giving children
traditional herbs based on their cultural practices would be better for
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14.
15. Sickle Cell Anemia Disease
What is Sickle Cell Anemia Disease?
Sickle Cell Anemia Disease is an inherited disease that turns healthy red blood cells (donut shape)
into abnormal sickle shaped red cells which affects people's hemoglobin (a red protein responsible
for transporting oxygen in the blood) (Naoum). This disease gets its name from the shape of red
blood cells under low oxygen condensation which becomes sickle shaped. These sickle shaped cells
get stuck in small blood vessels which causes people with this disease to have oxygen blockage
(fudge foundation). People inherit this disease from their parents, if both parents have a trait of
sickle cell anemia (people who inherit one sickle cell gene and one normal gene, they have a 25
percent chance of having an unaffected ... Show more content on Helpwriting.net ...
It is diagnosed by a blood test called hemoglobin electrophore that measures people abnormal sickle
hemoglobin. The amount of hemoglobin determines if a person has a sickle cell trait or sickle cell
disease (WebMD). If they do not have abnormal sickle hemoglobin they neither have a sickle cell
trait or disease. People who are affected by Sickle Cell Anemia crises (pain in your bones) go
through a lot of pain. They normally have chest pain, difficulty breathing, severe infections and
blood blockage. People who have Sickle Cell describe their pain in differently, Tiffany who has
Sickle Cells said, it's like repeatedly being stabbed by a butcher knife in the same spot. Another lady
Heather said. Her pain feels like someone is pouring glass in the same spot into her veins and
expecting her to keep living normal. Patients with this disease go through a lot of pain and are not
able to do anything about it because there are no cures for it. Pharmacist just have medicine to
manage their pain. Patients go to therapy, take vitamins, and get blood transfusions and induction of
hemoglobin to reduce their pain (WebMD). There are many more medicines now, in today's time, to
help people with their pain and people take medication
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16.
17. Sickle Cell Disease Analysis
The Genetics Home Reference writes that sickle cell disease affects the body's blood, in particular
the red blood cells. The hemoglobin in an afflicted person is abnormal and can warp the shape of the
red blood cells into a the shape of a sickle. Results of the odd–shaped red blood cells is them getting
caught in blood vessels or breaking down too early, often causing anemia (an insubstantial amount
of red blood cells) to occur. Because of these blockages, tissues and organs can be deprived of their
blood supply. This can cause damage to them and the most commonly affected organs are the brain,
spleen, lungs, and kidneys. Typically sickle cell disease symptoms start to appear in early childhood.
Common symptoms are frequent infections and painful ... Show more content on Helpwriting.net ...
The U.S. has mandatory sickle cell disease testing for all newborns and is required for all NCAA
college athletes. These tests identify whether a person has the sickle hemoglobin or not. If the
abnormal hemoglobin is found in the blood sample, a second test is run. Tests for sickle cell disease
can be run as early as 10 weeks into a pregnancy by running a test for the gene itself. Early detection
is very important in managing the disease and its complications. Parents of newborns with the
disease are educated about how to effectively manage the disease. There is not currently a widely
available treatment or cure for sickle cell disease. Treatment is mainly focused on the symptoms and
complications caused by the disease, in particular managing the pain, infections, strokes, and
damage to organs. Vaccines for diseases in recent years have significantly lowered the mortality
rates of people with sickle cell disease. Blood transfusions are a common treatment for
complications caused by the disease. Blood and marrow stem cell transplants are being explored as
treatments for the disease and even as a cure in a small amount of people. However, the transplants
are risky and can lead to other complications. Gene therapy is also undergoing studies as a possible
future treatment. The therapy would involve inserting the normal hemoglobin gene into the bone
marrow
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18.
19. Sickle Cell Disease Research Paper
Sickle–cell disease Chenglie Nanjie Sickle cell disease is a kind of disease that contains a group of
disorders that affects hemoglobin, the oxygen–carrying molecule in red blood cells that transfers
oxygen to cells (U.S. NIH, 2012). A particular mutation in the HBB (hemoglobin, beta) gene causes
sickle cell anemia, a common form of sickle cell disease (U.S. NIH, 2014). Sickle cell disease can
lead to various symptoms. Most significantly, it leads to very acute and chronic pain as well as organ
and tissue damage. Such organ and tissue damage affects all organs and tissues in a person's body,
including the bones, lungs and joints. Typically, in acute chest syndrome, fever, chest pain and
difficulty breathing always happen. Furthermore, sickle
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20.
21. Sickle Cell Is A Disease
Sickle Cell is a disease that you hear about, but not as often as you should. It is an inherited disease,
"the name derives from the red cells in the blood of sufferers and they take on the shape on a sickle
(crescent shape)." Another name for sickle cell is sickle cell anemia, because in some cases people
become anemic. With this disease comes low levels of hemoglobin, which is the red substance in
your blood that contains iron and carries oxygen. Due to the irregular shaped cells this can cause
blockage and prevent normal blood flow, this prevents the cells carrying oxygen around the body
properly. Shortage of oxygen can lead to damage that can occur in almost just about any organ in the
body. Sickle cell is found more often in African Americans. It is said that the disease originated from
Africa and most common in West Africa.
As far as treatment is concerned thankfully progression in modern science and medicine these last
ten years have brought greatly improved techniques. One of the first forms of treatment is nitric
oxide. Nitric oxide is a gas that scientists have tested on mice. This has been found to prevent the
dehydration of the cells and the hemoglobin formation of sickle rods. The second possibility is
blood transfusions. Transfusions are essential when dealing with severe cases of the
Paper 2 anemia. The process is called apheresis, which avoids overloading the patient's body with
iron, thus removing damaged cells from circulation. Although this has been
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22.
23. Causes Of Sickle Cell Disease
Sickle cell disease is a hereditary blood disorder most common in the African American community.
Many people are carriers of the sickle cell trait, however in order for a person to develop sickle cell
disease both parents must have passed on the trait to their child. Sickle cell disease causes a
mutation in normal red blood cells resulting in decreased tissue perfusion and organ damage. This
causes partial or complete replacement of normal hemoglobin with abnormal shaped sickled cells.
An abnormal shaped sickled cell may become lodged to a blood vessel where other cells then bind
to it and begin to form a clump. The blood vessels continually attach to each other and result in a
blockage of small blood vessels eventually resulting in organ ... Show more content on
Helpwriting.net ...
The short life span of RBCs and the damage they cause to tissues can result in the following signs
and symptoms: severe abdominal pain, priapism, tissue engorgement, painful swelling of joints and
feet, fever, shock, profound anemia, and hypovolemia. Many organs can be affected to include the
brain, eyes, bones, liver, spleen, kidneys, penis, extremities, and skin (Ball, J., & Bindler, R., 2015).
Pain from sickle cell crises is the most common reasons for hospitalization in children with sickle
cell disease. Pain typically affects the joints, chest, back and abdomen. Children may also
experience acute chest syndrome (ACS), a life threatening complication requiring hospitalization.
ACS is characterized by chest pain, fever, tachypnea, cough, shortness of breath, crackles and
... Get more on HelpWriting.net ...
24.
25. Hemoglobin And Sickle Cell Disease
Ana–Maria Sutac
Biochemistry 370
11/13/2015
Hemoglobin and Sickle Cell Disease
Introduction
Sickle cell disease, also known as SCD, is a hereditary blood disorder that takes place due to
mutation in the hemoglobin gene that is found in red blood cells. While it is said to have originated
in Africa and is mostly predominant in African Americans, sickle cell disease is now common
among different ethnic groups all over the world. Sickle cell anemia (HbSS) infects "an estimated
70,000 to 100,000 Americans"(Housman) and accounts for approximately 70% of anemia in the
United States. Hemoglobin functions as an oxygen carrying protein as it carries oxygen from the
lungs through the arteries and to the rest of the body. In sickle cell disease, ... Show more content on
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These subunits are held together by ionic, hydrogen bonds, van der Waals forces, hydrophobic
interactions as well as heme groups that are made up of Fe2+. Hemoglobin can be found in two
different states. The first state is known as the T–state when it is tense and oxygen deprived. The
second state is known as R–state when is relaxed and oxygenated. Hemoglobin first binds to oxygen
then transports it to blood vessels, which have low oxygen levels. After it releases the oxygen the
blood vessels, the red cells then transports carbon dioxide (CO2) from the tissues to the lungs where
it picks oxygen once more.
Cooperativiy, Affinity, and Efficiency
When a subunit binds to oxygen, it changes it conformation and sends messages to other subunits to
bind to oxygen as well. When more hemoglobin monomers (subunits) bind to oxygen, it is
increasing hemoglobin's affinity to oxygen, thus leading to better cooperativity. It was also
discovered that there is a higher affinity for purified hemoglobin rather than the hemoglobin inside
the red blood cells due to the anionic compound 2,3–bisphosphoglycerate (2,3–BPG). This molecule
binds to hemoglobin in a small pocket only found in the T state when it is deoxygenized and allows
it become stable. It further causes a reduction in hemoglobin's affinity to oxygen, working out in its
favor. During the transition from T to R state, the pocket containing 2,3–BPG is broken and
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26.
27. Sickle Cell Disease And Its Effects
Sickle Cell Disease Sickle cell disease affects approximately 100,000 Americans and millions across
the globe (Sobota, 2015). The three most common types of sickle cell disease are Hb SS (sickle cell
anemia), Hb SC, and Hb S beta thalassemia, with Hb SS being the most common type (Harris,
2001). Sickle cell disease occurs in individuals who inherit the mutated hemoglobin gene, from one
or both of their parents. The mutated hemoglobin, known as Hb S, crystalizes and join together "into
many small cords, which form chains that look like twisted wires" (Harris, 2001, p. 20). Stretched to
contain the Hb S crystals, the red blood cells take on spike and sickle shapes; this is how the name
for the disease came about (Harris, 2001). Deformed, the sickled cells have a hard time moving
through the blood stream and can eventually pile up in the blood vessels, having life–threatening
consequences. Although oxygen can reverse the sickling process in cells, turning Hb S back into a
liquid, after a few sicklings the red blood cells' membrane is permanently damaged and the cell will
remain sickled. The History of Sickle Cell Disease American physician James Herrick was the first
to describe sickle cell disease. In 1910, Herrick observed "peculiar elongated and sickle–shaped red
blood corpuscles" in the blood film of a West Indian student suffering from leg ulcers, shortness of
breath, and jaundice (Chakravorty & Williams, 2015, p. 48). In 1922, three more similar case were
observed and
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28.
29. A Genetic Disease: The Sickle Cell Disease
Sickle cell disease is a genetic disease that caused by abnormalities in the production of hemoglobin
of red blood cells, characterized by its sickle–like shape. While the main function of hemoglobin in
red blood cells is to carry oxygen to different parts of the body, these sickle cells are unable to
perform this task adequately. The sickle shape of these red blood cells contributes to lower blood
flow through vessels as they begin to build up and block passage through smaller blood vessels
("Facts About Sickle"). Although there are several types of sickle cell diseases, the most severe and
common form is sickle cell anemia. Sickle cell anemia is a form of this disease where a child
inherits one sickle cell gene from each parent and therefore
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30.
31. A Study On Sickle Cell Disease
CHAPTER 1
INTRODUCTION
Sickle Cell Disease
Sickle Cell disease (SCD) is an inherited blood disorder in which abnormal hemoglobin is produced
in red blood cells. The body creates sickle red blood cells, which are crescent shaped instead of the
typical round shape. This shape of the sickle cells are stiff, as well as stick and because of this they
tend to block blood flow in the blood vessels of the limbs and organs. This blockage will cause pain
and organ damage, as well as serious infection. (National Heart, Lung, and Blood Institute [NHLBI],
2014.). Sickle Cell Disease is also known as sickle cell anemia and Hemoglobin SS Disease.
According to the National Heart, Lung, and Blood Institute (NHLBI) there is an estimate of 70,000–
100,000 ... Show more content on Helpwriting.net ...
SCD produces a group of symptoms known as a sickle cell crisis. These are episodes of pain that
can be vary in its frequency and severity. When the body begins to over exert itself, due to illness,
physical or emotional stress, or even high altitudes, it begins to demand more oxygen, which
increases sickle cell crises. (NHLBI, 2014). There is no timetable to how long these crises can last, it
can be hours or it could be days. They affect the back, the long bones such as legs and arms, and the
chest. It also affects breathing and oxygen levels which can cause acute chest syndrome. Patients
may require hospitalization for several days to receive intravenous fluids and narcotics for pain
(NHLBI, 2014). One example of the complications of SCD and the need to be watched in a hospital
facility during a crisis is if a blood clot that is formed because of the sickle cells is formed in the
brain, a stroke can occur, which can lead to paralysis or death (Gaston, 1990). Patients with SCD
report a wide range of frequency of pain episodes, from one or two episodes a year to several per
month (Chen, Cole, & Kato, 2004)
Hydroxyurea (HU) and long–term blood transfusions can be affective to decrease pain and crises
while treating SCD, but it is hematopoietic stem cell transplantation that can be considered a
curative approach, though
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32.
33. Pharmacogenomics Of Sickle Cell Disease
Pharmacogenomics of Sickle Cell Disease
Abstract
Hydroxyurea is a treatment therapy that is currently used to treat sickle cell disease. There are a total
of 23 single nuclear polymorphisms (SNPs) that are involved with sickle cell disease. When
hydroxyurea is given at an optimal maximum dose, it will act on the BCL11A gene and increase the
fetal hemoglobin concentrations. There are a total of 5 SNPs that are associated with the BCL11A
gene. Some parameters that were observed are differences in pharmacodynamic effects (PD),
percent fetal hemoglobin (%HbF) and maximum tolerated dose (MTD). Hydroxyurea positively
affected all of these parameters. It also helped tolerate the symptomatic effects of sickle cell disease.
Patient reported outcomes allow practitioners to optimize dosage of hydroxyurea in conjunction
with other medications. Thus far, hydroxyurea treatment has been effective in treating sickle cell
disease.
Introduction
Sickle cell disease is a chronic condition that a person can inherit from their parents in which it
effects the globular structure of the patients red blood cells. A more sickle shaped structure, which
can alter a person's blood flow, replaces the more common globular structure. This impairment in
blood flow can lead to blood clots, severe debilitating pain and damage to vital organs such as the
liver, kidney and spleen. This disease currently affects over 90,000 people in the United States, with
the majority of them being African American and
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34.
35. The Sickle Of Sickle Cell Disease
Sickle cell disease is a group of inherited blood disorders that affects the red blood cells, specifically
the hemoglobin. This disease is very interesting because it actually is said to have protective
advantages against malaria in the traits heterozygous form. Some scientists, along with students at
Kenyon college, claim that the sickle cell trait has evolved or has been naturally selected because it
provides vital protection from malaria (Camperchioli). This is mainly backed by the fact that the
sickle cell trait is most commonly found in areas where malaria is predominant. Sickle cell disease
is a leading cause of death for children in Africa and has begun to spread all over the world, which is
why it is important to understand how ... Show more content on Helpwriting.net ...
Approximately 100,000 Americans have the disease and it is beginning to effect more people around
the world and spreading due to technology and innovations (National Heart, Lungs, and Blood
Institute). Malaria is also a deadly disease that effects many people. In 2012, it was found that over
600,000 people died from the disease and about half of the world live in areas that are at high risk of
malaria transmission (Centers for Disease Control and Prevention). The relation between sickle cell
and malaria is so important to study and understand because of the two severe diseases it deal with
and the size of the effected population.
According to A. Alison, there's a possibility that people with the sickle cell trait have an advantage
over those without the trait. In 1946, Beet ran an experiment involving 102 sickle cell infected
patients from Rhodesia and only 9.8% of them had signs of malaria, where 491 patients without the
sickle cell trait were also tested and 15.3% of them had malaria parasites. In another study the same
experiment was conducted, but on African children. 27% of the children with the trait showed signs
of the parasite, where 46% of the children without contained the parasite. The results show a large
difference
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36.
37. Sickle Cell Disease: An Overview
Sickle Cell Disease: An Overview Sickle Cell Disease is a hereditary issue in which the body
produces Sickled formed red platelets. In Sickle cell disease, or SCD, the hemoglobin in red
platelets gathers together. This in turn causes red platelets to get firm and C–formed. The most well–
known signs and indications of SCD are anemia and pain through the body. Sickle Cell Disease
occurs most commonly in individuals whose families descend from West Africa, South or Central
America (particularly Panama), Caribbean islands, Mediterranean nations, (for example, Turkey,
Greece, and Italy), India, and Saudi Arabia. In the United States, it's estimated that Sickle cell
affects between 70,000–100,000 individuals, predominately African ... Show more content on
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The condition creates when Sickle–molded red platelets hinder move through minor vessels to the
midsection, mid–region, joints, and once in a while bones, bringing on great torment and distress.
Torment may change in force and can keep going for a couple of hours to a couple of weeks. Some
individuals encounter just a couple of scenes of torment. Others encounter twelve or more
emergencies a year. In the event that an emergency is serious enough, it may oblige hospitalization.
A significant muddling of Sickle cell frailty is oxygen hardship in blood and organs. The
accompanying portrays a portion of the other wellbeing issues of those hit with SCD: Stroke. A
stroke can happen if Sickle cells piece blood stream to a region of your mind. Intense midsection
syndrome. This life–debilitating entanglement of Sickle cell sickliness causes midsection torment,
fever and trouble relaxing. Pulmonary hypertension. Shortness of breath and trouble breathing are
regular manifestations of this condition, which might be deadly. Organ harm. Sickle cells may
obstruct blood move through veins, instantly denying an organ of blood and oxygen. Constant
hardship of oxygen–rich blood can harm nerves and organs in your body, including your kidneys,
liver and spleen. Lack of sight. Minor veins that supply your eyes can get obstructed by Sickle cells.
This can harm the retina, the segment of the eye that techniques visual pictures, about whether.
Gallstones. The
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38.
39. Sickle Cell Disease And Cancer
Sickle Cell Disease and Thalassemias Sickle Cell Disease (SCD) and Thalassemias are similar blood
disorders with some important differences. Sickle Cell Disease is a disorder where the red blood
cells are sickle–shaped, which causes them to stick to vessel walls preventing much needed oxygen
from traveling through the body. Thalassemias has normal looking red blood cells, but the body does
not make enough healthy cells or hemoglobin. This means there is a lack of oxygen because the
body does not produce enough blood or hemoglobin to carry it throughout the body. The two
diseases have basic similarities reflected by the concepts regarding diagnosing and treatment plans.
They also differ in many ways; for example, Sickle Cell consist of more complications than the
Thalassemias disorder. Thalassemia, however, affects more ethnic backgrounds and numbers of the
afflicted are spread over a greater geographical area. Sickle Cell and Thalassemia can be diagnosed
by a blood test that checks for certain genetic markers. Generally a person will have two
hemoglobin genes. If testing determined you are missing one, or both, then you are either a carrier
or you have Thalassemia. Sickle Cell testing does not look for missing genes, as in testing for
Thalassemia, it is looking for an abnormal hemoglobin gene. If you have one or both of these genes,
the result is the same as Thalassemia, you are either a carrier or you have the disease. Being a carrier
of either of the
Parks 2
genes
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40.
41. Sickle Cell Disease Paper
This mutation paper is to give information on the Sickle Cell disease. This is a negative disease to
have because the Sickle Cell Disease decreases the health of the person that has the disease and
limits what they can and cannot do. Sickle Cell Disease is a red blood cell disease that causes ab
normal hemoglobin to from in the veins. Hemoglobin is the protein that carries oxygen throughout
the body to help with the respiratory system. The cause of the genetic mutation is inheritance or
getting the disease from the parents the disease is found on chromosome 13 while the hemoglobin is
still in beta phase on gene HB A. The disease typically shows symptoms within the first 5 to 6
months of birth and being diagnosed with Sickle Cell Disease. The symptoms include painful
swelling on the hands and feet, and Jaundice, which causes a white color to form under the eyes, and
turns the skin color yellow.
To test for the diagnosis, you must get the testing done when you are first born or a person can get
the disease when you are older so people may want to do a test every 10 years. The testing is done
with a blood test they prick your finger to draw some blood and put the blood sample under a
microscope to ... Show more content on Helpwriting.net ...
The person diagnosed with the disease will have to get lots and lots of sleep because they get very
tired easily. Also, you must be careful around fluctuating temperatures because it can also increase
the amount of Sickle cells to increase. The likely chance of getting the disease is less than 200,000.
In conclusion, the Sickle Cell Disease is a negative one to have even though there are not many
people who have the disease. Still for the people who have the disease it is negative because the
disease limits what they can do and shortens their chance of survival. This is the side of the
argument that argues that. The Sickle Cell Disease is a terrible one to
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42.
43. Sickle Cell Disease Essay
Sickle Cell Disease
Sickle Cell Disease is an illness that affects people all across the globe. This paper will give a
description of the sickness through the discussion of the causes, symptoms, and possible cures.
Sickle Cell Disease (SCD) is a "group of inherited red blood cell disorders."(1) These disorders can
have various afflictions, such as pain, damage and a low blood count––Sickle Cell Anemia.
The overall incidence of SCD is eight out of 100,000 people. However, it is much more widespread
in some people. "One out of 600 African Americans and one out of 1,000 to 1, 400 Hispanic
Americans" are affected. (2). However, there are other populations who are especially affected, as
well. These include, but are not ... Show more content on Helpwriting.net ...
In order to get Sickle Cell Anemia, you must have the Sickle Cell Trait. This is defined as "A person
who carries one sickle hemoglobin producing gene inherited from their parents and one normal
hemoglobin gene." (3) People who only have one copy of the mutation have the trait. "It is estimated
that 1 in 12 African Americans has sickle cell trait." (3) Having the trait will NOT cause SCD.
However, having the gene does allow you to pass the mutation on to your children. In fact, "A child
conceived by two people with sickle cell trait has one chance in two of also having sickle cell trait,
one chance in four of having sickle cell anemia."(3)
Now that the disease is more clearly defined, we must ask, why did this illness come about? This is
one of the most interesting facts about Sickle Cell. Since the trait originated in countries that were
ravaged by malaria, it could be said that this trait evolved to fight the deadly mosquito–spread
disease. "People with sickle trait were more likely to survive malaria outbreaks in Africa than those
with normal hemoglobin, it is believed that genetically aberrant hemoglobin evolved as a protection
against malaria."(2) It has also been said that, "People with a single copy of a particular genetic
mutation [sickle cell trait] have a survival advantage. One copy of the mutation confers a benefit."
(3) Its quite interesting to find that original purpose of this gene was
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44.
45. Thesis Statement For Sickle Cell Disease
DO TEENAGERS WITH SICKLE CELL DISEASE EXPERIENCE TRUE PAIN OR ARE THEY
SIMPLY DEPENDENT ON PAIN MEDICATIONS? Salve Aguilar West Coast University
Pathophysiology Dr. Isabelle Tardif July 31, 2015 Topic: Do teenagers with sickle cell disease
experience true pain or are they simply dependent on pain medication? I. Thesis statement: In order
to comprehend teenagers' pain levels, we must understand the sickle cell disease itself. By
recognizing the signs, symptoms, and pain management of sickle cell disease patients, education on
pain management can be improved in regards to patients, their families, and health caregivers. II.
Understanding and identifying the cause of sickle cell disease. A. Sickle cell disease is a serious ...
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Carlton, MA. National Human Genome Research Institute, National Institutes of Health, The
Phoebe T. Berman Bioethics Institute, Johns Hopkin University. Sickle Cell Related Pain: Crisis and
Conflict: Legal, Ethical and Social Considerations from
www.med.umich.edue/anes/mpost//pub01/todd2006jpain.pdf Dorman, Karen. Sickle Cell Crisis:
Managing the Pain (Dec 2005) from www.modernmedicine.com./modern.../sickle–cell–crisis–
managing Fletcher, Cynthia (2002). Managing Pain with Teenagers with Sickle Disease. Topics in
Advance Practice Nursing, 2(2),5 from www.medscape.com/viewarticle/430536 Solomon,
Lawrence R., Treatment and Prevention of Pain due to Vaso–occlusive Crises in Adults with Sickle
Cell Disease: an Educational Void from www.bloodjournal.org Westerdale, Neill, MSC, RSCN,
RGN (March 2004). Managing the Problem of Pain in Adolescents with Sickle Cell Disease from
www.nursingtimes.net/managing–the–problem–of–pain–in–adolescents–with sickle–
disease/199864.article Taking Control: Teens with Sickle Disease (2012). St. Jude Children's
Research Hospital Department of Hematology. Patient Education, and Biomedical Communications
from https:/www.stjude.org/content/dam/en_US/Shared/www/patient–support/hematology–
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46.
47. Sickle Cell Disease Essay
Sickle Cell Disease is a genetic disease caused by a SNP (Single Nucleotide Polymorphism). Which
means it is caused by a single letter gene mutation. Through the advent of CRISPR/Cas9 the disease
might be cured. It is a serious reality and will enter medical trials within a handful of years. Sickle
Cell Disease is an inherited disease that predominantly affects people of African descent. Red Blood
cells become rigid and sickle shaped, causing blockages and pain crises. In cases of Sickle Cell
Disease the Beta–Globin are mutated causing faulty and deformed Hemoglobin proteins thus
creating sickled and short–lived Red Blood Cells. Symptoms Include anemia, pain crises, and
stunted growth. Anemia is caused because sickled cells die much more frequently, ... Show more
content on Helpwriting.net ...
Sickle Cell Trait hereditary pattern is autosomal recessive. Meaning two copies of Sickle Cell Trait
must be present for the disease to be expressed. People who inherited a single copy of Sickle Cell
Trait express no disease and live normal lives. Both copies of Sickle Cell Trait cause a SNP
mutation in the Hemoglobin Beta Gene, located on chromosome 11q15. A single thymine molecule
gets replaced by a adenine molecule. This single molecule mutation causes the person to produce
mutated Beta–Globin. Beta–Globin is an essential piece of of the protein Hemoglobin, a single
Hemoglobin protein is comprised of two Beta–Globins and two Alpha
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48.
49. Sickle Cell Disease : A Blood Disorder
Sickle Cell Disease Sickle cell disease is a hereditary blood disorder caused by an abnormal
hemoglobin in the red blood cell. Hemoglobin is a type of protein that carries oxygen in the body. In
order for someone to have sickle cell disease they would need to have been passed down from at
each one of their parents, by inheriting a total of two hemoglobin genes. The fact that this is a
hereditary disease means that it is not considered to be contagious. This disease comes in about six
different forms, but the most severe of them all is sickle cell anemia. Sickle cell is an inherited
disease that affects the red blood cells causing debilitating symptoms, however, with treatment
people with this disease can quite possibly live an otherwise ... Show more content on
Helpwriting.net ...
(NHLBI, 2015) There are a few scenarios of the passing of the disease or trait from the parent to the
offspring. If one parent has the gene it can be passed to the child, causing the child to be a carrier of
the trait. In other words, the child will be able to produce normal hemoglobin as well as the sickle
shaped hemoglobin. They will also be able to pass it to their offspring. If both parents carry the trait
the child has a 50 percent chance of being a carrier, percent chance of not getting the gene at all, and
25 percent chance of having sickle cell anemia. In most cases, people with sickle cell begin
experiencing symptoms at the age of 4 months' symptoms include fatigue which happens due to the
loss of red blood cells after they rupture as they are extremely fragile. Another symptom will be the
pain, it develops when other is a blockage within the blood vessels in your chest, abdomen, and
joints. Intensity varies and can even lead to hospitalization. Delayed growth and vision problems of
blood cells blocking areas of the body. You are more prone to infections and will also experience
swelling of the hands and feet. The gene is most common in countries such as Africam India,
Mediterranean countries, Sauda Arabia, the Caribbean islands, South and Central America, and also
in the United States. According to American Society of Hematology, the United States, sickle cell is
mostly in the black community.
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50.
51. Sickle Cell Disease Introduction
Introduction
The term of Sickle cell disease (SCD) describes a group of inherited red blood cell disorders.
"Inherited" means that it is passed by genes from parents to their children.
People who have SCD have abnormal hemoglobin in their red blood cells, called hemoglobin S.
This abnormality leads to a propensity for the cells to assume an rigid sickle–cell shape. Sickle cell
disease is associated with a number of acute and chronic health problems as severe infections,
severe pain, stroke and an increased risk of death.
Also SCD is not contagious. A person can't catch it, like a cold, from someone else.
A person who has a single abnormal copy does not experience symptoms. Such people are referred
to as carriers. However, People who have this disease inherit two abnormal hemoglobin genes, one
from each parent. One of the two abnormal genes causes a person's body to make hemoglobin S.
When a patient has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell
anemia. This is the most common and most severe kind of SCD.
Hemoglobin SC disease and hemoglobin Sβ thalassemia are other major forms of SCD.
The complications of the disease can be prevented with vaccination, antibiotics, blood transfusion,
and ... Show more content on Helpwriting.net ...
In people homozygous for HgbS, the presence of long–chain polymers of HbS change the shape of
the red blood cell from a doughnut–like shape to ragged and full of spikes, making it fragile and
susceptible to break. Carriers have symptoms only if they are deprived of oxygen, while climbing a
mountain or while severely dehydrated. The disease occurs when the glutamic acid is replaced by
valine to change its structure and function; sickle–cell anemia is also known as E6V. Valine is
hydrophobic amino acid , which causes the haemoglobin to collapse on itself occasionally. When
enough haemoglobin collapses on itself the RBC become
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52.
53. Sickle Cell Disease Analysis
Sickle Cell Disease (SCD) sickle shaped red blood cells are abnormal in size and function;
compared to the Thalassemias red blood cells appear normal in appearance but there are not enough
of them being produced for the body to sustain homeostasis. The two diseases have basic similarities
within their diagnosis and treatments. They differ in the way of which, SCD complications exceed
Thalassemias, with Thalassemias epidemiology reaching more ethnic backgrounds and numbers
affected over a greater geographical area. A blood test can determine if a person may have either of
these diseases. It is ideal to find out if you are a carrier of a genetic trait, being each is an inherited
disease, before deciding to have children. In doing so, you can ... Show more content on
Helpwriting.net ...
SCD mostly affect African Americans, 1 in 13 are born with the trait, 1 in 365 are born with the
Parks 2
Disease. SCD is also found in smaller ratios within the Hispanic, Southern European, Middle
Eastern, or Asian Indian ethnicity. Thalassemias is diagnosed more so relating to the Greek or Italian
race with a large ratio of 150–300 out of 1000 persons verses the 50 – 100 of 1000 persons affected
in Southeast Asian. African American are 50–100 out of 1000 as well. The National Heart, Lung,
and Blood Institute states that "Approximately 100,000 Americans have SCD." Whilst, a different
web page, characterizes Thalassemias as "Most common genetic disorder worldwide." (Clinical
Key) The site also states that "Currently, approximately 1000 patients with severe Thalassemias in
the United States." Once diagnosed, this is a life long treatment, which include; blood transfusion to
treat the mild to severe anemia of Thalassemias, as well as transfusions for the treatment of mild to
moderate anemia pertaining to Sickle Cell Disease. There are several medications given; antibiotics,
pain, and vitamins, as well as other procedures. Blood transfusions may cause one of the
complications of these diseases, iron build up in the
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54.
55. Sickle Cell Disease ( Ocd )
Sickle Cell Disease (SCD) is an inherited autosomal recessive condition that causes the red blood
cells (RBCs) to be crescent shaped. Sickle cell disease occurs in 1 out of every 400 African
Americans births (Field, et al 2009). And according to the Centers of Disease Prevention and
Control (CDC), 1 out of 13 African American babies are born with the sickle cell trait (SCT). At the
same time SCD is present in only 1 out of 300 Caucasian babies, thus it is considered to be one of
the most prevalent genetic health disparities affecting people of African, Indian, Hispanic, and
Mediterranean decent (Kotch, et al 2000).
In order for a person to have this disease, both parents have to carry the Sickle Cell Trait. This trait
is given to the parents by their parents in which one of them has the sickle cell gene "S "and the
other has the normal "A" gene. Children are diagnosed with SCD as early as 4 months old and
accurately diagnosed by the age of 6 months old.
Normal RBCs are disc shaped in which they are able to easily travel throughout the body, especially
through the tiniest blood vessels. However, with sickled shaped RBCs, they clump together while
flowing through these particularly small vessels, which causes the loss of oxygen throughout the
tissues and organs. This monogenetic disease is caused by a point mutation in the β– globin gene
that creates abnormal Hemoglobin S (HbS). There are five different haplotypes for SCD that are
classified by their geographical region
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56.
57. The Sickle Of Sickle Cell Disease
Sickle cell disease was discovered in 1910 in the United States. Many cases came to surface after
that, and it was clear that sickle cell disease is predominantly common in the African American
ethnicity. Sickle cell disease is caused by a mutation in the hemoglobin of red blood cells. The most
common, known sickle cell disease is sickle cell anemia. There is no cure for Sickle cell disease, but
there was a treatment that help relieve pain, prevent infections, and prevent organ damage. A drug
called Hydroxyurea could be used to increase the production of fetal hemoglobin during pregnancy.
Bone marrow treatment, is when stem cells are removed from one person to another person. Cord
blood with stem cell transplantation, can replace someone's abnormal stem cells with a donors stem
cell.
Symptoms
Signs that show when sickle cell is present is when anemia starts to show in the blood cells and they
become weak to where it breaks apart, periods of pain where the blood is unable to flow to the
vessels which causes joint pain, and recurrent infections because sickle cell can damage organs that
help fight off infections. Sickle cell was a trait that was inherited by one or both parents. The shape
of a normal red blood cell is a disc–shape that looked like a doughnut, whereas a sickle cell has a
crescent shape. An individual that inherited the defective gene from both parents had the sickle cell
gene and is homozygous. If left untreated, usually the person would die in their
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58.
59. Sickle Cell Disease Essay
Introduction The term sickle cell disease (SCD) involves a range of disorders characterized by the
occurrence of at least one haemoglobin S (Hb S) allele and a second abnormal allele allowing
abnormal haemoglobin polymerization leading to a symptomatic disorder. Most patients often are
healthy at early stages in their life and become symptomatic later on in their life time. Fetal
haemoglobin levels decrease and haemoglobin s levels increase. Sickle cell disease is determined at
conception, when a person acquires his/her genes from the parents. Sickle cell disease cannot be
caught, acquired, or otherwise transmitted. A study carried out in 2012 by Priola and a team wrote a
study about a 30–year–old man with a history of sickle cell disease ... Show more content on
Helpwriting.net ...
The mutation of sickle cells reflects on a change in the amino acids protein which transports oxygen
into haemoglobin. This is the protein which gives red blood cells its colour and consist of two
subunits the first being the alpha subunit which is common in individual's with sickle cell disease.
The second subunit is beta this has an amino acid at position 6 instead of the glutamic acid being
present. If the beta globin gene is sickle and the other gene is normal this individual is a carrier of
sickle cell disease, this condition is known as sickle cell trait, it's a rare condition. If both the beta
globin genes are sickle then the individual has sickle cell disease, those with sickle cell trait cannot
develop sickle cell disease. This shift is the basis of all the problems that occur in people with sickle
cell disease. Some types of haemoglobin molecules such as fetal haemoglobin which is found before
birth block the interactions between haemoglobin s and deoxygenated molecules. This haemoglobin
disappears within the first year after birth. One approach to treating sickle cell disease is to rekindle
production of fetal haemoglobin. The drug, hydroxyurea induces fetal haemoglobin production in
some patients with sickle cell disease and improves the clinical condition of some people (Okam,
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60.
61. Causes Of Sickle Cell Disease
Sickle cell disease is caused by a mutation in the hemoglobin–Beta gene found on chromosome 11.
Red blood cells with normal hemoglobin (hemoglobin–A) are smooth and round and glide through
blood vessels, but the ones infected with sickle cell tend to be more of a crescent shape and don't
slide as easy. To get the disease you must receive two of the genes from your parents. If you only
have one you will have what is called Sickle Cell trait but there are no symptoms or problems for
most people.
Sickle Cell Disease, more commonly known as Sickle Cell, is a red blood cell disorder that affects
the shapes of the blood cell. It causes the cell to change a shape causing the cells to die. The normal
life span of a red blood cell is about 120 days
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62.
63. Sickle Of Sickle Cell Disease
Sickle cell disease is an ailment that specifically targets red blood cells, causing them to sickle into a
cone shape and hinders the transfer of oxygen to other parts of the body. Lack of oxygen can
damage tissues and cause major problems for the person affected. As a black male, I am very
familiar with sickle cell disease. I have family members with the disease, such as my uncle who was
very susceptible to illness as a child due to the disease. I remember him telling me how his body
would ache as a child. I also have an ex–girlfriend who had regular pain episodes as well and had to
go to the hospital frequently. I am sure plenty of my brothers and sisters of Sub–Saharan African
descent either know someone who has sickle cell disease, is a carrier or they have it themselves.
Sickle cell disease is categorized as an autosomal recessive disease. That means in order for one to
inherit the disease, they must inherit two recessive alleles for sickle cell disease, or hemoglobin S
gene. Having only one recessive allele makes you a carrier. The disorder causes the affected person's
red blood cells to disfigure into a crescent or sickle, which differs from the normal red blood cells
that shaped into a doughnut. Sometimes, cells in a sickle shape cannot get through the narrow
passageways of the blood vessels as easily as normal red blood cells. This blocks blood from
entering and oxygen can't reach the affected person's organs. It can also crystallize and block arteries
and
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64.
65. Essay On Sickle Cell Disease
Sickle–Cell Disease
A group of disorders that have an impact on hemoglobin is called sickle–cell disease.
This disease can be deadly and needs to be discussed. During the lecture about chapter five, the
class learned about the sickle–cell disease. This paper will discuss what sickle–cell disease is, the
different types, how common it is, who gets it, symptoms, lethal or manageable information,
treatments, and diagnosis.
Sickle–cell disease refers to an inherited blood disorder. One amino acid takes the place of the
protein hemoglobin. The body receives oxygen from hemoglobin in red blood cells. A mutated form
of hemoglobin affects the red blood cells. Hemoglobin S can turn red blood cells into a certain
crescent shape.
The different types of ... Show more content on Helpwriting.net ...
With new treatments, the potential to live with a sickle–cell disease has currently increased. Most of
the deaths from the sickle–cell disease are from bacterial infections. The buildup of blood cells that
sickle in the blood vessels of the brain can cause strokes in the victims.
New treatments for sickle–cell disease make the potential to live much greater. People with the
sickle–cell disease need to check with their doctor a few times a year. Children with a sickle–cell
disease can take penicillin every day to prevent infections. People with a sickle–cell disease need to
undergo vaccines such as pneumococcus, influenza shots, and meningococcus.
Diagnosis can be done through blood test before or after birth.
In conclusion to this paper on sickle–cell disease, the information is summarized. Sicklecell disease
is a blood disorder, there are many different types, it is most common among African genes, people
all over the world can get it, the symptoms usually happen during childhood, it can be lethal but
there are treatments to help, and diagnosis can be done through a blood test. Sicklecell disease is an
inherited blood disorder that people are becoming more aware
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66.
67. Genetic Disease: Sickle Cell Anemia
The focal point of this journal article focused on how the inherited genetic disease; Sickle cell
anemia, is influenced by ethnicity and ancestry; two key categories that must be considered when
explaining genetic associations and comparing traits amongst a population. This article compared
the genetic profiles of African Americans with sickle cell disease to individuals of the Caucasian/
European descent and African descent. They discovered that although there is slight genetic
comparison between ethnicity, there are more similarity in relation to ancestry and the Sickle cell
trait. Three ancestry's that resonated the most were the Mandinka's, Yoruba's, and Bantu from West
Africa. In this study, researchers combined genome data from different ... Show more content on
Helpwriting.net ...
Sickle cell disease is an inherited blood disorders which leads to an abnormal hemoglobin or red
blood cell shape. Hemoglobin is the protein found in red blood cells which transports oxygen
throughout the body. Sickle cell disease is inherited by being passed on through genes from parents
to their offspring. It is not a contagious as one cannot contract it through an infection or being with
someone else. Individuals with Sickle cell disease inherit two abnormal hemoglobin genes from
each parent respectively. The alteration in the composure of hemoglobin of someone with sickle cell
leads to the change in red blood cell shape from a normal circle to a sickle shape. This leads to blood
clotting, dehydration, anemia, and low oxygen in tissues. Furthermore, some other negative side
effects of Sickle cell anemia are weakened bones and an overworked heart. Although Sickle cell has
no present–day cure, there are experimental trials being conducted through bone marrow transplant
and has proven effective. The primary goal of this transplant study is to reduce and ultimately
eliminate the frequency of the Sickle cell episodes, crisis maintain normal hemoglobin levels. There
are ways to prevent episodic sickle cell crisis such as staying adequately hydrated, limiting physical
activities, blood transfusions and taking
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68.
69. Causes Of Sickle Cell Disease
Sickle cell disease is a genetic disorder blood disease. Instead of normal, round, red blood cells, the
cells are sickle shaped causing blockage of capillaries. Sickle cell is inherited from both parents. For
the child to have sickle cell disease both parents must have the sickle cell trait. (Mayo Clinic, 1)
Sickle cell trait is a gene that can create sickle cell disease for their child if the other parent has the
trait. Carriers of the trait typically live normal lives. Sickle cell trait cannot become sickle cell
disease, but they can pass the trait on to their children or even have a child with the disease. (Sickle
Cell Disease Symptoms, Causes, Treatments. 1) Only under extreme conditions like severe
dehydration, high altitude, or very ... Show more content on Helpwriting.net ...
Some children experience extreme or intense pain and some not as much. Pain usually happens one
third of all days. Out of one school term on average a week is spent in bed. Sickle cell patients can
find ways to live mostly comfortable, normal lives. Drinking lots of water to keep hydrated
throughout the day is a great way to try to stay away from pain attacks. Getting plenty of rest and
warmth are great ways to soothe pain. (Sickle Cell Society, 1) Sickle cell is a genetic disorder so it
appears just as an infant as young as 4 months old. Sickle cell sadly doesn't go away, but cures
might be just around the corner. Sickle cell is tested at the hospital in newborns with a blood test. It
is tested in every newborn today, but can also be tested in older children and adults. In adults it is
drawn from a vein in the arm. (Mayo Clinic,
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70.
71. Sickle And The Sickle Cell Disease
The sickle cell disease affects about 100,000 people in the America. The most common ethnic group
the sickle cell anemia is seen in is African Americans and Hispanics. Approximately one in every
ten African American and one in every one hundred Hispanic Americans have the sickle cell trait.
Approximately two million people have the sickle cell trait in America. Approximately one in five–
hundred African Americans and one in one thousand to one thousand and four hundred Hispanic–
Americans have sickle cell disease. No universal cure has been found for sickle cell anemia ("Facts
About Sickle Cell Trait And Disease,"n.d.). Sickle cell anemia affects many Americans and a
universal cure needs to be found. Sickle cell trait is when one person ... Show more content on
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Sickle cell anemia can produce mild to severe symptoms and complications. Anemia symptoms are
tiredness, irritability, dizziness, lightheadness, a fast heart rate, difficulty breathing, pale skin color,
jaundice, slow growth and delayed puberty. Hand–foot syndrome which is usually the first symptom
of sickle cell anemia is the swelling of the hands and feet ("Facts About Sickle Cell Disease," 2016).
The signs and symptoms can vary from person to person and change over time in sickle cell anemia
(https://www.nhlbi.nih.gov/health/health–topics/topics/sca/signs). Over time sickle cell anemia can
worsen. ("Facts About Sickle Cell Disease," 2016) Complications of sickle cell anemia are pain
crisis, infection, acute chest syndrome, splenic sequestration, vision loss, leg ulcers, stroke, deep
vein thrombosis and pulmonary embolism. Pain crisis is a feeling of pain that can happen all of the
sudden with mild to severe intensity and last for a period of time ("Facts About Sickle Cell Disease,"
2016). Serious bacterial infections are potential life threatening due to the damage to the spleen in
some people who have sickle cell anemia (https://www.nhlbi.nih.gov/health/health–
topics/topics/sca/signs). Acute chest syndrome can be life threatening and symptoms included chest
pain, coughing, difficulty breathing, and fever. Splenic sequestration is can be life threatening
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72.
73. Sickle Cell Disease
Abstract:
Sickle cell disease is a severe genetic disorder which generates deformed red blood cells (RBCs).
These altered red blood cells can obstruct the blood vessels causing vaso–occlusion complications.
The current management of sickle cell disease is symptomatic, with the lack of any specific
treatment for vaso–occlusion. Some of the recent studies have suggested the role of pro–
inflammatory activity of aged neutrophils and induction of neutrophil extracellular trap (NET)
formation. In addition, microbiome has been described to regulate neutrophil ageing via Toll–like
receptor and myeloid differentiation factor 88–mediated signaling pathways. In this review, the role
of these mechanisms and possible therapeutic opportunities targeting vaso–occlusion will be
discussed.
Keywords
Abbreviations
NET– neutrophil extracellular traps
SCD– sickle cell disease
1. Introduction
Sickle cell disease is a severe genetic disorder resulting from a point mutation of glutamic acid to
valine at position 6 in the beta globin chain. the formation of sickle hemoglobin which polymerizes
in deoxygenated state and generates deformed red blood cells (RBCs). These altered red blood cells
can obstruct the blood vessels causing vaso–occlusion complications– episodes of pain, organ
injury, and mortality. It is worth noticing that the most common clinical manifestation of SCD is
vaso–occlusive crisis and the current management of sickle cell disease is symptomatic, with the
lack of any specific
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74.
75. Sickle Cell Disease Essay
1.1. Background on Sickle Cell Disease
Sickle cell disease is a disease that is most prevalent in people of African descent along with people
of Mediterranean and Middle Eastern origin. This disease is known to affect about 70, 000
Americans and about 2 million people carry the trait (meaning that, they carry a single gene
mutation). Sickle Cell Disease is an autosomal recessive genetic disease that occurs due to a
mutation in the β–globin gene of hemoglobin. Autosomal meaning that it is not linked to a sex
chromosome, so either parent can pass on the gene to their child. This mutation is a result of a single
substitution of amino acids, Glutamic for Valine at position 6 of a β globin chain. The presence of
this mutation causes ... Show more content on Helpwriting.net ...
He used a reduced intensity regimen to treat his patients. Reduced–intensity conditioning is a bridge
between myeloablative and non–myeloablative conditioning. Myeloablative conditioning being the
complete destruction of a recipient's bone marrow while Non–myeloablative conditioning is a
reduced form of myeloablative conditioning in the sense that a lower dose of chemotherapy and
radiation therapy is used. The process starts with a high dose chemotherapy treatment and then a low
dose chemotherapy treatment.
The idea behind Dr Krishnamurti's treatment was that since the main target was the red blood cell,
there was no need to completely destroy the patient's own bone marrow. He deduced that a reduced–
intensity conditioning would be suitable to let the donor cell successfully be engrafted and since the
donor cell contains its own immune system, it will use it to clear out the recipients system.
Patients who underwent this procedure had to remain on immunosuppressive drugs for about 6
months to prevent the recipient's immune system from destroying the donor cell. One out of seven
patients that had this procedure done had a relapse because they stopped taking their
immunosuppressant drug during the critical stage of treatment. This treatment has proven
successful, but there still remains the concern of tissue rejection and other complication.
Nevertheless, this approach still provides encouragement for people suffering with the disease.
Amongst the different
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76.
77. A Study On Sickle Cell Disease
Sickle cell disease, SCD, is an inherited autosomal recessive genetic disorder that affects 1 in 500
Americans of West African descent with one in 12 African Americans and one in 100 Hispanics
being carriers ("Learning." 2014). SCD is prevalent in individuals with origins in equatorial
countries, such as central Africa, Near East, Mediterranean area, and in parts of India (McCance,
2010). Sickle cell anemia, sickle cell–thalassemia, and sickle cell–Hb C are all forms of sickle cell
disease with sickle cell anemia being the most severe. Within the general population there is a 0.7%
chance of two African American parents having a child with sickle cell anemia, a 1 in 800 birth risk
for sickle cell–Hb C, and 1 in 1700 birth risk for sickle– cell thalassemia (2010). The incidence of
sickle cell trait carriers can range from 7% to 13% in blacks and up to 45% in people from Eastern
Africa. In comparison to the other forms of SCD, sickle cell anemia is present in a homozygous
form. Individuals are considered to be sickle cell trait carriers when they inherit Hb S from one
parent and normal hemoglobin from the other parent, these individuals rarely present with any
clinical manifestations (2010).
Individuals with SCD inherit the sickle globin gene (HbS) from one parent and a normal (HbA)
from the other parent. The allele for individuals with a sickle cell trait would be HbAS or AS and
HbSS for those with SCD (2010). When two individuals are carriers to the defective gene
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