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Brookfield, Conn: Twenty-First Century Books. Jones, P. (2008). Sickle cell disease. This type of
hemoglobinopathy produces a group of disorders known as the thalassemia syndromes; as in those
with sickle cell trait, thalassemia is believed to provide partial protection from malaria and occurs in
high prevalence in the Mediterranean area, the Middle East, and southeast Asia. Symptoms of the
disease A child can be able to start showing symptoms of the disease as early as the age of 6 months.
Its application is limited due to a lack of human leukocyte antigen-matched siblings without disease.
Hydroxyurea decreases the incidence of painful episodes, but patients treated with hydroxyurea
should be carefully monitored. These blockages cause repeated episodes of severe pain, organ
damage, serious infections, or even stroke. IN TRAININGS.pptx SICKELE CELL DISEASE
MODULE 3 SEJOJO.pptx TO BE PRESENTED. Mutations of these different genes cause a variety
of SCD. The distribution of SCT reflects the survival advantage in regions (tropical areas) where
malaria is endemic as the gene mutation offers partial protection against serious malarial infection. An
example of a normocytic, normochromic peripheral blood picture is shown on the right. It is
estimated that for every 1000 Hispanic American, 1 is likely to have the disease. The gene therapy
used was an erythroid-specific gathering of anti-sickling proteins that would make up more than half
of hemoglobin and almost all of the red blood cells in the body. However around 70% of the patients
with sickle disease doesn’t experience the crises, among the ones who experience the crisis, it mainly
occurs like once in a lifetime or even after a year depending with the patient. Talk to your doctor if
you’re pregnant or plan to become pregnant. This is always very painful and most patients are known
to scream because of the pain. This can c ause variou s proble ms - as described later. A decreased
uteroplacental blood flow correlates with low birth weight, but uteroplacental blood flow is not
improved following transfusion and reduction of sickle cells, suggesting a vascular cause for the
abnormal flow. Increased levels of HbF, as in the case of the Saudi Arabian genotype, result in more
benign forms of SCD. Erections that are painful for males also require medical attention 8. Blindness
and other common eye problems e.g. eyesight 6. Skin infections such as ulcers and sores that take a
lot of time to heal 7. Malaria is a parasite that comes from a bite of a female mosquito and infects
the body with Plasmodium. If the damage cannot be arrested through medications, the spleen
shrinks in size and ceases to function. Keep on browsing if you are OK with that, or find out how to
manage cookies. Complications and Treatments Symptoms and complications of SCD are different
for each person and can range from mild to severe; This may include; Anaemia. Although the exact
reasons for this increased susceptibility to infection is poorly understood, one factor is the loss of
splenic function caused by sickle cells. We also share with you offers, news and other updates. Sickle
cell trait means you carry a sic kle cell gene, but it does not normally cause illness. It runs in families
and is more common in Blacks or African Americans. Intracranial hemorrhage occurs in young adults
with a high immediate mortality. Also massage the areas that are painful and has sores.
Seminario biologia molecular-Universidad Pontificia Bolivariana. We use cookies to create the best
experience for you. The prevalence is higher with African haplotypes than that of Saudi Arabia. 1,
25, 38, 39 The primary etiology for ACS is pulmonary vascular occlusion. This includes
Mediterranean, South East Asian countries (including India), and Saudi Arabia. People who have
this get 1 sickle cell gene from a parent and 1 normal gene from the other parent. The condition is
most often seen in infants and children because their spleens are intact, and can cause sudden death
in young children. It usually comes with severe pains during times of crisis. The delay in presentation
is due to the presence of HbF in the infant’s RBCs. This is unlikely to stop the pain completely but
can attempt to minimize the effects. Early screening for asthma starting at age 1 and pulmonary
function test at least every 5 years starting at age 6 have been recommended. Although Sickle Cell
carriers are not sick, they can either pass the normal hemoglobin gene or the mutated sickle Cell gene
to their children and thus may pass the disease along. An example of a normocytic, normochromic
peripheral blood picture is shown on the right. COMPLICATIONS Acute Complications Fever and
Infection Functional asplenia and failure to make antibodies against encapsulated organisms
contribute to the high risk of overwhelming sepsis in individuals with SCD. The blood sample is
analysed to see what type of haemoglobin is present in the blood (using a test c alled ha emoglobin
ele ctrophoresis or other m ethods). Talk to your family doctor to find out if this information applies
to you and to get more information on this subject. A low Hb F level, an elevated white blood cell
(WBC) count, and severe anemia are predictors of premature mortality and reflect an underlying
inflammatory state indicative of severe disease. It was hypothesized that because of the impact that it
has on the body it must also play a role in something as important as proper sleep. Screaming and
moving suddenly when touched is also a call for help 5. The globin consists of four polypeptide
subunits, in two pairs. This phenomenon is demonstrated in South Africa, in the West Indies and in
the United States of America. The results indicated that patients with sickle disease had a
significantly lower quality of life on all subscales as compared to the Dutch norm population. It is
important for the family members to know that this disease is inherited from one generation to
another and the only time that one should worry about is when their parents and close relatives have
the disease. The red blood cells also lose their normal functional capacity and acquire a sickle shape
and this leads to anaemia in the patient. When parents learn about the conditions of their children at
an early age, they are able to help them therefore preventing them from having future problems and
helping them develop faster in class. However, there are things you can do to help prevent them.
Normally, the mutation is in the beta chain and gives rise to hemoglobin S (HbS); Generally, the
signs and symptoms of Sickle Cell Disease usually begin in early childhood, with some of the
characteristic features including a low number of red blood cells, repeated infections, and periodic
episodes of pain (Jones, 2008). Hemolysis (anemia and jaundice) is often present, although for
painful crises the. Conversely, when populations emigrated to a non-endemic malaria zone the
incidence of the Hb S gradually waned over many generations owing to the absence of the selective
survival and reproductive advantage. Stem cell transplant using umbilical cord blood from a related
donor has also been curati?e in a small nu mber of patients. People with the disease have abnormal
hemoglobin, a protein in red blood cells that carries oxygen in the body.
Intracranial hemorrhage occurs in young adults with a high immediate mortality. The median survival
determined by the Cooperative Study of Sickle Cell Disease is 42 years for males and 48 years for
females (Platt et al., 1994), and appears to be improving in developed countries as the result of
advanced technology and modern medical treatment. The increased workload on the heart causes
easy fatigability and a decreased tolerance for physical activity. There is no curative treatment for
Sickle Cell Disease, except for bone marrow stem cell transplantation, which is extremely limited in
use. Remember to discuss your concerns with the doctor as this is the best person who is in a
position to help you. Federal government websites often end in.gov or.mil. Before sharing sensitive
information, make sure you're on a federal government site. Infants should receive the first dose after
6 weeks of age. Because of the complexity of the disease, a multidisciplinary team is needed to
provide high-quality medical care, education, counseling, and psychosocial support. These
individuals do not have the symptoms and signs of vasoocclusion, such as acute pain, frequent
infections, or chronic organ damage, with two exceptions. Delay in puberty by 1 to 2 years is
common in adolescents with SCD and fertility problems tend to occur more often in female SCD
patients than in normal women. 60, 61 Psychiatric Depression and anxiety are more common in
children and adults with SCD than in the general population and have a significant impact on quality
of life. 62, 63 Depression is associated with pain episodes in children with SCD. Genetically
speaking, its made up of 2 alpha and 2 beta chains. When there is a high level of bilirubin the body, it
causes gall-bladder stones, or gallstones. Consequently, transfusion-transmitted hepatitis B and C are
common manifestations in this disease. Upload Read for free FAQ and support Language (EN) Sign
in Skip carousel Carousel Previous Carousel Next What is Scribd. At the conclusion of this program,
the attendee will have a better understanding of: The genetics and transmission of Sickle Cell
Disease. So, a SCD patient is rehydrated with IV fluids to force the RBCs to return to the normal
shape. On average, 1 in 2,400 babies born in England have SCD, but rates are much higher in some
urban areas - about 1 in 300 in some places. Signs can include headache, seizures, weakness of the
legs and arms, speech problems, a facial droop, or loss of consciousness. In malaria-endemic regions,
this has led to positive selection of the genetic mutation A holistic a pproach to treatment is
recommended, with an emphasis on patient education and guidance on home management as well as
on immediate clinical needs Bone marrow transplantation is the only curative treatment Associated
with lifelong morbidity and reduced life expectancy. It’s only known that SCD is an inherited or
genetic disorder. The risk of gallstones increases with age: 14% by age 10 years and 50% by age 22
years. Other forms of hemoglobin are HbA 2 (2% to 3%) and fetal hemoglobin (HbF; less than 1%).
The globin chains stabilize and solubilize the heme and facilitate oxygen uptake in the lungs and
release in the tissues. Sickle Cell Disease Name University Sickle Cell Disease Sickle cell disease
refers to a group of disorders among which sickle cell anaemia is the most common. If any of the
above mentioned conditions are noticed, ensure that you call a doctor to manage the progress of the
patient. 1. If the patient has a fever of 38 degrees Celsius or 101 degrees Fahrenheit, then it is
advisable to call the doctor immediately 2. However, some who are simply carriers can still have
similar shared characteristics as those with the disease. Painful crises are treated symptomatically
with analgesics. Left ventricular stiffness and left ventricular hypertrophy have been reported, and
the progression is speculated to lead to diastolic dysfunction later in life. Talk to your doctor if
you’re pregnant or plan to become pregnant. This treatment should be reserved for only extreme
cases.
Transfusion and hydroxyurea are the mainstays of current treatment; additional therapies are in
development and await demonstration of efficacy in the clinic. The only cure is a well-matched stem
cell transplantation, but this procedure is not widely available to everyone. Surface adhesion proteins
that maintain the reticulocytes inside the marrow adhere to the endothelium in postcapillary venules,
further blocking the mature HbS-containing RBCs leading to complete occlusion of microvessels. 6,
18 In addition to sickling, other factors are also responsible for the clinical manifestations associated
with SCD. This condition is always genetic and is passed from one generation to another. A booster
dose of PPSV 23 is recommended 5 years after the first dose. Hydroxyurea is the first clinically
acceptable drug that has been shown to deter painful crises in adults with sickle cell anemia
(Charache et al. 1995). Hydroxyurea differs from opioids because it does not have any effect during
a crisis (Charache et al. 1995). Its goal is to help decrease the number of crises and provide a long-
term health treatment (Charache et al. 1995). To detect the sickle cell mutation, a patient’s DNA is
digested with Restriction enzymes and the digested DNA is examines in an electrophoresis gel.
Pulmonary changes often involve the lower lobes of the lungs and may cause pleural effusions.
Acute chest syndrome affect almost 50% of the patients and it is the second leading cause of
emergency. A cute ch est syn drome can sta rt a few d ay s afte r a p ain ful sickle crisis. Possibilities
with each pregnancy: 50% normal (AA); 50% SCT (AS). (A, normal hemoglobin; S, sickle cell
hemoglobin) FIGURE 82-3 Sickle cell gene inheritance scheme for one parent with sickle cell trait
(SCT) and one parent with sickle cell anemia (SCA). Synthesis defects are caused by a genetic
change in the factors that control normal globin chain production, so that either alpha or beta globin
is underproduced. Other types of SCD involve one sickle cell gene plus another abnormal
haemoglobin gene of a different type. They carry oxygen from the lungs to thousands of tissues all
over the human body and help maintain overall health. This can c ause variou s proble ms - as
described later. If this happens a crisis can lead to life-threatening heart problems. A majority of
children who experienced chest pain or ECG findings suggestive of myocardial infarction had
myocardial perfusion, which can leave permanent damage (Wagdy et al. 2018). A crisis is painful
and able to cause damage to the body and yet the only valid form of care that can be given during
this time is pain management. Reduced mortality has been associated with the introduction of
pneumococcal vaccines. 26, 68 Two different pneumococcal vaccines are available. The size of the
obstructed vascular area and the amount and duration of the ischemia determine the degree of pain
or organ damage. Those with SCD, specifically children, must manage their care or are at higher risk
for morbidity. Outside the medical fraternity, very few people are aware of this event, or even about
this ailment. The only abnormalities are possible crackles over the right upper lobe and a spleen
palpable 1 to 1.5 cm below the left costal margin. It’s only known that SCD is an inherited or genetic
disorder. HbSC; People who have this form of SCD inherit a sickle cell gene (“S”) from one parent
and from the other parent a gene for abnormal hemoglobin called “C”. This is one of the most
important and challenging parts of the process. Hemoglobin has a quaternary structure characteristic
of many multi-subunit globular proteins. Splenic sequestration is characterized by the enlargement of
the organ and decreased Hb levels along with thrombocytopenia present occasionally. The amount of
HbF and HbA 2 in relation to HbS influences the clinical manifestations and accounts for some of
the variability in severity among SCD genotypes. 2, 5 Intravascular destruction of sickle cells can
occur at an accelerated rate. The occurrence of cerebral infarct in HbSS is 11% by age 20 years and
24% by age 45 years with a recurrence rate as high as 70% in 3 years. James Everett, LaCasha
Gordon, Richard Lucas, Eboni Taylor. Children with sickle cell disease and fever should be seen by a
doctor.
Talk to your family doctor to find out if this information applies to you and to get more information
on this subject. A low Hb F level, an elevated white blood cell (WBC) count, and severe anemia are
predictors of premature mortality and reflect an underlying inflammatory state indicative of severe
disease. Mycoplasma pneumoniae and Chlamydia pneumoniae should be considered in older
children with infiltrates on chest radiograph. The globin chains stabilize and solubilize the heme and
facilitate oxygen uptake in the lungs and release in the tissues. So if you see your child displaying
any of these symptoms, consult a doctor. Conversely, when populations emigrated to a non-endemic
malaria zone the incidence of the Hb S gradually waned over many generations owing to the absence
of the selective survival and reproductive advantage. Delayed growth and sexual maturation appear
to be related to nutritional factors, although the exact mechanism is still not clear. Normally, these
are disc-shaped and easily slide through even the narrowest of blood vessels. Investigators in the
United States and in France are just beginning human trials of gene therapy (Bank et al., 2005).
Consenting to these technologies will allow us and our partners to process personal data such as
browsing behavior or unique IDs on this site. In addition to physical examinations, evaluations
should include chest radiographs. In addition, the level of depression has been reported to be
associated with anxiety between mothers and children. 64 DSM-IV psychiatric diagnosis in
adolescents with SCD include attention-deficit-hyperactivity, oppositional defiant, conduct, major
depressive, and anxiety disorders. 65 Pregnancy Pregnancy introduces an increased risk for the
mother with SCD and for the fetus. Included among these types are the three most commonly found
in the United States: the Bantu haplotype, characterized by severe disease; the Senegal haplotype,
characterized by mild disease; and the Benin haplotype, characterized by a course intermediate to
that of the other two haplotypes. These individuals are also more prone to infections (Bloom 1995;
Govan et al 1995; Ganong 2005). This complication is related to the hemolytic anemia, possibly
through consumption of nitric oxide, a potent vasodilator, and is responsible for early mortality in
those affected (Gladwin et al., 2004). It can last from hours to days depending on the severity and
how long it takes for the clot to move. This always results in late emergency calls or unnecessary
medical emergency calls. Normally functioning RBCs survive for approximately 120 days in the
peripheral blood circulation before being removed by the liver or spleen. Other types of SCD involve
one sickle cell gene plus another abnormal haemoglobin gene of a different type. Stuttering priapism
is repeated intermittent attacks up to several hours before remission; whereas ischemic priapism is a
persistent painful erection greater than 4 hours and should be considered as an emergency. This
paper 'Sickle Cell Disease' tells us that sickle cell is a disease that is hereditary and is passed from one
generation to another. The presence of sickled RBCs increases blood viscosity and encourages
sludging in the capillaries and postcapillary venules. Sickle cell Anemia is a serious disorder in which
the body makes sickle shape blood cells instead of regular ones. Chronic renal failure has been
reported in 30% of adults with SCD, and end-stage renal disease is associated with high mortality. 2,
14, 58, 59 Growth and Development Delayed growth and sexual maturation are common in patients
with SCD. Other hemoglobins may be co-inherited with Hb S but are less frequent; disease results
when the second hemoglobin participates in the polymerization process. Helpful Reminders.
Rename. Rename your Zoom screen, with your name and organization. Malaria is a parasite that
comes from a bite of a female mosquito and infects the body with Plasmodium. Because of increased
hydrophobicity as a result of the valine-substituting glutamic acid substitution, solubility of
deoxygenated HbS is reduced. Upload Read for free FAQ and support Language (EN) Sign in Skip
carousel Carousel Previous Carousel Next What is Scribd. The symptoms can include chest pain,
high tempera ture (fever) and shortness of breath.