Sickle Cell Anemia
Definition and description succinct outline of sickle cell anemia is as follows.
Sickle cell anemia is an inherited blood disorder characterized primarily by chronic anemia and periodic episodes of pain. The underlying problem involves hemoglobin, a component of red blood cells….In sickle cell anemia, the hemoglobin is defective. After hemoglobin molecules give up their oxygen, some may cluster together and form long, rod-like structures. These structures cause red blood cells to become stiff and assume a sickle shape. (Genetic Disease Profile: Sickle Cell Anemia)
Sickle cell anemia is in essence a condition in which there is insufficient healthy blood cells to convey oxygen to the body. A second cardinal aspect is that it is an inherited and largely genetically determined illness. (Sickle cell anemia)
Sickle cell disease can result in a number of disorders including “…chronic anemia, jaundice, severe pain, poor resistance to infection and sometimes an early death.” (Pines 40) This disease has genetic origans and parameters and “…affects some 50,000 Americans, mostly blacks.” (Pines 40)
In more detail, sickle cell disease can be described as originating from an anomaly in cell structure and”… has been traced to a single gene and the resulting misplacement of just one amino acid out of 300 in the hemoglobin molecules of the victims’ red blood cells.” (Pines 40) In this disease the cells become distorted and deviate for their normal healthy shape. This results in structure that is similar to a crescent or a sickle – hence the name. The distortion of shape in the cell results in a number of internal abnormalities in the cell structure. “The abnormal cells may stick together, obstructing the small blood vessels and causing damage as well as pain, or be removed too rapidly by the spleen, causing anemia.” (Pines 40)
Figure 1. An illustration of the difference between a normal blood cell and a sickled cell.
Sufferers of sickle cell anemia have abnormal hemoglobin known as hemoglobin S; while normal hemoglobin is termed hemoglobin A.
Sickle cell anemia originates from a genetic anomaly which “makes the hemoglobin molecules stick together in long, rigid rods after they release oxygen. These rods cause the red blood cells to become hard and sickle-shaped, unable to squeeze through tiny blood vessels.” (New Hope for People with Sickle Cell Anemia) These cells can then obstruct blood flow resulting in blockages that deprives the body of vital oxygen.
This sequence of events has been described as being similar to a heart attack throughout the body. “In sickle cell anemia, the blood flow can be interrupted to any of the major organs, causing severe pain and organ damage at the site of the blood flow blockage.” (New Hope for People with Sickle Cell Anemia) Attacks like this can damage numerous vital organs such as the lungs, kidneys, liver, bones, as well as other organs and tissues. Furthermore, it can result in various related health problems such as blindness, leg ulcers as well as strokes, due to the interruption of the flow of blood to the brain.
As a result of the fact that the bodies defenses realize that these cells are abnormal, it consequently destroys these cells at a rate that exceeds their replacement and this results in anemia. This makes the sufferer more susceptible to tiredness and infection. (New Hope for People with Sickle Cell Anemia) “Normal red blood cells live about 120 days in the bloodstream, but sickled red cells die after about 10 to 20 days. Because they cannot be replaced fast enough, the blood is chronically short of red blood cells, a condition called anemia.” (Genetic Disease Profile: Sickle Cell Anemia)
Inheritance and genetics
Research has shown that the genetic origins of this defective hemoglobin gene lie mainly in Africa, as well as in, the Mediterranean, the Middle East and India. (Sickle cell anemia) The mutation of this gene has also been linked to a defense mechanism against malaria in these parts of the world. “…some people in those regions had a genetic mutation that caused some of their red blood cells to change shape — a condition now known as sickle cell trait. The sickle cells actually interfered with the growth of the parasite that causes malaria. So people with sickle cell trait often survived malaria outbreaks.” (Sickle cell anemia)
An important aspect of Sickle cell disease is that as many as two million Americans are carriers of this cellular defect and can transmit the disease through marriage to their partners who also have the same abnormal cellular structure. In terms of its genetic structure “…Sickle cell anemia is an autosomal recessive genetic disorder caused by a defect in the HBB gene, which codes for hemoglobin.” (New Hope for People with Sickle Cell Anemia)
In order for sickle cell anemia to manifest itself the presence of two defective genes (SS) are needed. In other words, if two parents are the carriers of one sickle hemoglobin gene (S) as well as a single normal cell (A) then each chills born for these parents will have a “…25% chance of inheriting two defective genes and having sickle cell anemia; a 25% chance of inheriting two normal genes and not having the disease; and a 50% chance of being an unaffected carrier like the parents.” (New Hope for People with Sickle Cell Anemia)
Individuals who have only one copy of the mutation are said to have sickle cell trait. These people are usually healthy but can transmit the disease to their children.
This aspect is clarified by the fact that, “Sickle Cell trait (AS) is an inherited condition in which both hemoglobin A and S. are produced in the red blood cells, always more A than S. Sickle cell trait is not a type of sickle cell disease. People with sickle cell trait are generally healthy.” (What is Sickle Cell Disease?)
In more technical parlance the gene that is known to be the cause of sickle cell anemia is termed HbS. “Sickle cell anemia is actually a group of diseases collectively termed hemoglobinopathies in which normal adult hemoglobin (HbA) is partly or completely replaced by abnormal sickle hemoglobin (HbS). Other correct terms are SS and homozygous sickle cell disease.” (Sickle Cell)
Sickle cell anemia affects approximately 50,000 Americans and its incidence is mainly distributed among those of African heritage. (Sickle cell anemia)
In the United States about one in every four hundred African-American infants is born with the disease as a result of inheriting the genetic mutation from both parents. (New Hope for People with Sickle Cell Anemia) It is also estimated that those individuals who have the sickle cell trait number one in twelve of the African-American population.
However, this disease is not limited to people of African heritage and can occur in non-African-Americans.
People whose ancestors came from parts of the world where malaria was prevalent are potentially carriers of the sickle gene…In addition to people of African descent; people whose ancestors came from the Mediterranean basin-Greece, Italy, Sardinia-may also carry the gene. The sickle gene is also found in parts of India and the Arabian peninsula.
New Hope for People with Sickle Cell Anemia)
The estimated mortality rate for Sickle Cell Anemia is approximately 500 people in America annually. However the rate of incidence of the disease in the U.S.A. is 72,000, with an estimated 2 million carriers of the disease. The rate of death compared to prevalence is 0.70%, which also indicates the relative success of modern methods of treatment – an aspect that will be referred to in the last section of this paper. (Prognosis of Sickle Cell Anemia)
There is no clear-cut single set of clinical symptoms for this disease. The symptoms can range from relatively mild reactions in some patients to severe and life-threatening signs in others. However the common denominators in all patients who suffer for this disease are that their symptoms can be related to the problem of restricted blood flow.
The following are some of the most common symptomatic signs. A condition known as hand-foot syndrome is common. This is “When small blood vessels in hands or feet are blocked, pain and swelling can result, along with fever. This may be the first symptom of sickle cell anemia in infants.” (Genetic Disease Profile: Sickle Cell Anemia) Another common symptom is fatigue, which is often accompanied by shortness of breath. These are obvious signs of anemia due to the shortage of red blood cells.
Patients can also experience unpredictable pain in their joints or body organs. “A patient may experience pain wherever sickled blood cells block oxygen flow to tissues. The frequency and amount of pain vary. Some patients have painful episodes (also called crises) less than once a year, and some have as many as 15 or more episodes in a year.” (Genetic Disease Profile: Sickle Cell Anemia)
Sufferers of this disease can also experience eye problems. This is due to the fact that a lack of circulating blood can case the retina of the eye to deteriorate. Another symptom that is often found is a yellowing of skin and eyes; this is a sign of jaundice due to the breakdown of red blood cells. Another sign is that children may show delayed growth and development. (Genetic Disease Profile: Sickle Cell Anemia)
One of the aspects that problematizes this disease are the complications that can arise as a result of the lowering of body defenses and the increased vulnerability to illness. This can be ascribed to spleen damage. The disease “….prevents the spleen from destroying bacteria in the blood. Infants and young children, especially, are susceptible to bacterial infections that can kill them in as little as 9 hours from onset of fever.” (Genetic Disease Profile: Sickle Cell Anemia)
Stroke is anther serious possible consequence of this disease. This can result from defective cells damaging the walls of red blood vessels.
6. Brief historical overview.
While the HbS gene is usually found in Africa, yet there is very little evidence and reporting of this gene in African medical literature until the 1870s.
One reason given for this is that many of the symptoms of sickle cell anemia are similar to other diseases found on the continent. (Sickle Cell) Therefore most of the reports and published documentation about the disease are related to studies of patients in the United States.
One of the very first published medical papers on this disease was, “Case of Absence of the Spleen” in the Southern Journal of Medical Pharmacology, published in 1846 in America. (Sickle Cell)
However one of the first modern formal reports on the disease was published in Chicago 1910. This report was to establish the name of the disease. “In the western literature, the first description of sickle cell disease was by a Chicago physician, James B. Herrick, who noted in 1910 that a patient of his from the West Indies had an anemia characterized by unusual red cells that were “sickle shaped.” (A Brief History of Sickle Cell Disease)
The following are some of the most significant events related to the historical study and research of sickle cell anemia.
Taliafero and Huck first recognized that the sickling phenomenon was an inherited condition in 1923. (Ingram 38)
In 1927, Hahn and Gillespie showed that sickling of the red cells was related to low oxygen. (A Brief History of Sickle Cell Disease)
In 1948, using a new technique known as protein electrophoresis, Linus Pauling and Harvey Itano showed that “…the hemoglobin from patients with sickle cell disease is different than that of normals. This made sickle cell disease the first disorder in which an abnormality in a protein was known to be at fault.” (A Brief History of Sickle Cell Disease)
In 1949, Neel and Beet, independently, put forward the now accepted view that individuals with the severe sickle cell anemia were homozygous for an abnormal gene and that sickle-cell trait carriers were heterozygous, having one normal and one abnormal gene.” (Ingram 38)
In 1956, sickle cell disease became the first genetic disorder whose molecular basis was known. This was achieved by Vernon Ingram and J.A. Hunt who “…sequenced sickle hemoglobin and showed that a glutamic acid at position 6 was replaced by a valine in sickle cell disease. Using the known information about amino acids and the codons that coded for them, they was able to predict the mutation in sickle cell disease. “(A Brief History of Sickle Cell Disease)
The first reported cure of sickle cell disease took place in 1984, when bone marrow transplantation in a child with sickle cell disease produced the first reported cure of the disease. “The transplantation was done to treat acute leukemia. The child’s sickle cell disease was cured as a side-event. The procedure nonetheless set the precedence for later transplantation efforts directed specifically at sickle cell disease.” (A Brief History of Sickle Cell Disease)
Another important breakthrough occurred in 1986 when a study found that “…young children with sickle cell anemia who took penicillin twice a day by mouth had much lower rates of S. pneumoniae infection than a similar group of children who received a placebo.” (A Brief History of Sickle Cell Disease)
In 1987, a panel of experts recommended that “…all infants born in the United States be screened for sickle cell anemia so that children with the disease could be identified early and offered treatment with penicillin.” (New Hope for People with Sickle Cell Anemia)
In 1995 a drug known as Hydroxyurea became the first and only drug that was successful in preventing various complications that could result from sickle cell disease. (A Brief History of Sickle Cell Disease)
7. Prognosis and treatment.
At present there is, except for bone marrow transplant, no known cure for sickle cell disease. However ” Transplants are complicated procedures and aren’t an option for everyone.” (Sickle Cell Disease) Transplants often have extreme risk factors are also made problematic by donor matching and rejection issues. This is indicated in the following explanation of the dangers of this process. “First you give drugs to kill off the patient’s marrow, then you do the transplant to replace the marrow. But the powerful drugs given to kill the patient’s bone marrow can be dangerous for someone who has had a stroke or is at risk for stroke.” (New Hope for People with Sickle Cell Anemia)
However, while there is as yet no definitive cure for this disease many studies point out that “…life expectancy for individuals with sickle cell anemia has improved.” (New Hope for People with Sickle Cell Anemia) This is largely a result of early identification techniques and neonatal screening. Other factors such as penicillin therapy and early intervention have gone a long way to the alleviation of the more severe symptoms of the disease. “Improving treatment has raised lifespans into the 40’s and rising. ” (Prognosis of Sickle Cell Anemia)
As mentioned above, a recent breakthrough is the use of the drug Hydroxyurea. This has been found to be beneficial in treating the complications as well as the levels of pain in the sufferers of sickle cell anemia. However the full and long-term effects of this drug are not yet fully known and doctors only prescribe it under certain conditions. There are also a number of questions about its impact on the body and health that still need to be answered.” Many questions about hydroxyurea in the treatment of sickle cell anemia remain unanswered…Doctors do not know what the most effective and least toxic dose of the drug is or whether taking it for many years presents health risks.” (New Hope for People with Sickle Cell Anemia)
Gen therapy is an avenue that is being explored in the fight against this disease. The National Heart, Lung and Blood Institute (NHLBI) recently funded three centers to develop gene therapy for sickle cell anemia. As one medical expert states; “If you could replace the abnormal genes, you could cure the disease. However, there are significant technical problems involved in making gene therapy work.” (New Hope for People with Sickle Cell Anemia)
Prehospital and EMS care and management of the disease are also factors that needs consideration. It is recommended that prehospital care is feasible when the severity of the disease is not extreme and “…self-treatment at home with bed rest, oral analgesia, and hydration is possible.” (Anemia, Sickle Cell)
However if the situation worsens and the patient has to be transported by EMS, “…they should receive supplemental oxygen and intravenous hydration en route to the hospital,” (Anemia, Sickle Cell) Prehospital management of sickle cell crisis should also include management of pain and involves the “… tailoring analgesics and dosages to the level of pain experienced by the patient, ” as well as the “…administration of analgesics, including narcotics and NSAIDs, intracellular hydration with hypotonic fluids, bed rest, and antibiotics to treat underlying infection and other precipitants.” (Paris et al. 2005)
The treatment and management of this disease has shown considerable advancement, which is evidenced by the decrease in the mortality rate. “In the past, individuals with sickle cell anemia often died in childhood. A 1973 study estimated that half of those with the disease died by the age of 14.” (New Hope for People with Sickle Cell Anemia) This situation no longer applies and there is new hope for sufferers of this disease in the use of modern drugs, the increased awareness of the disease and the promise of gene therapy. There has also been research into the way that life habits can reduce the effects and complications of this disease. “…increasing knowledge about their specific effects on human development has led to various forms of environmental treatment: medications, diet, or a change in life habits. ” (Pines 40)
Brief History of Sickle Cell Disease. May 31, 2006. http://sickle.bwh.harvard.edu/scd_history.html
Anemia, Sickle Cell. May 31, 2006. http://www.emedicine.com/EMERG/topic26.htm
Genetic Disease Profile: Sickle Cell Anemia. May 31, 2006. http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/sca.shtml
Sickle cell anemia. May 31, 2006. http://www.mayoclinic.com/health/sickle-cell-anemia/DS00324
Sickle Cell Disease. May 31, 2006. http://kidshealth.org/parent/medical/heart/sickle_cell_anemia.html www.questia.com/PM.qst?a=o&d=100632495
Ingram, Vernon M. The Hemoglobins in Genetics and Evolution. New York: Columbia University Press, 1963. Questia. 1 June 2006 http://www.questia.com/PM.qst?a=o&d=100632497.
New Hope for People with Sickle Cell Anemia. May 31, 2006. http://www.pueblo.gsa.gov/cic_text/health/sicklecell/496_sick.html
Paris et al. Hematological Disorders. 2005. May 29, 2006. http://www.emsresponder.com/features/article.jsp?id=1741&siteSection=16 www.questia.com/PM.qst?a=o&d=10384269
Pines, Maya. Inside the Cell: The New Frontier of Medical Science. Bethesda, MD: U.S. Dept. Of Health Education, and Welfare, Pubic Health Service, 1978. Questia. 1 June 2006 http://www.questia.com/PM.qst?a=o&d=10384269.
Prognosis of Sickle Cell Anemia. May 31, 2006. http://www.wrongdiagnosis.com/s/sickle_cell_anemia/prognosis.htm
Sickle Cell. May 30, 2006. http://www.innvista.com/health/ailments/anemias/sickle.htm
What is Sickle Cell Disease? May 30, 2006. http://www.sicklecelldisease.org/about_scd
Get Professional Assignment Help Cheaply
Are you busy and do not have time to handle your assignment? Are you scared that your paper will not make the grade? Do you have responsibilities that may hinder you from turning in your assignment on time? Are you tired and can barely handle your assignment? Are your grades inconsistent?
Whichever your reason is, it is valid! You can get professional academic help from our service at affordable rates. We have a team of professional academic writers who can handle all your assignments.
Why Choose Our Academic Writing Service?
- Plagiarism free papers
- Timely delivery
- Any deadline
- Skilled, Experienced Native English Writers
- Subject-relevant academic writer
- Adherence to paper instructions
- Ability to tackle bulk assignments
- Reasonable prices
- 24/7 Customer Support
- Get superb grades consistently
Online Academic Help With Different Subjects
Students barely have time to read. We got you! Have your literature essay or book review written without having the hassle of reading the book. You can get your literature paper custom-written for you by our literature specialists.
Do you struggle with finance? No need to torture yourself if finance is not your cup of tea. You can order your finance paper from our academic writing service and get 100% original work from competent finance experts.
While psychology may be an interesting subject, you may lack sufficient time to handle your assignments. Don’t despair; by using our academic writing service, you can be assured of perfect grades. Moreover, your grades will be consistent.
Engineering is quite a demanding subject. Students face a lot of pressure and barely have enough time to do what they love to do. Our academic writing service got you covered! Our engineering specialists follow the paper instructions and ensure timely delivery of the paper.
In the nursing course, you may have difficulties with literature reviews, annotated bibliographies, critical essays, and other assignments. Our nursing assignment writers will offer you professional nursing paper help at low prices.
Truth be told, sociology papers can be quite exhausting. Our academic writing service relieves you of fatigue, pressure, and stress. You can relax and have peace of mind as our academic writers handle your sociology assignment.
We take pride in having some of the best business writers in the industry. Our business writers have a lot of experience in the field. They are reliable, and you can be assured of a high-grade paper. They are able to handle business papers of any subject, length, deadline, and difficulty!
We boast of having some of the most experienced statistics experts in the industry. Our statistics experts have diverse skills, expertise, and knowledge to handle any kind of assignment. They have access to all kinds of software to get your assignment done.
Writing a law essay may prove to be an insurmountable obstacle, especially when you need to know the peculiarities of the legislative framework. Take advantage of our top-notch law specialists and get superb grades and 100% satisfaction.
What discipline/subjects do you deal in?
We have highlighted some of the most popular subjects we handle above. Those are just a tip of the iceberg. We deal in all academic disciplines since our writers are as diverse. They have been drawn from across all disciplines, and orders are assigned to those writers believed to be the best in the field. In a nutshell, there is no task we cannot handle; all you need to do is place your order with us. As long as your instructions are clear, just trust we shall deliver irrespective of the discipline.
Are your writers competent enough to handle my paper?
Our essay writers are graduates with bachelor's, masters, Ph.D., and doctorate degrees in various subjects. The minimum requirement to be an essay writer with our essay writing service is to have a college degree. All our academic writers have a minimum of two years of academic writing. We have a stringent recruitment process to ensure that we get only the most competent essay writers in the industry. We also ensure that the writers are handsomely compensated for their value. The majority of our writers are native English speakers. As such, the fluency of language and grammar is impeccable.
What if I don’t like the paper?
There is a very low likelihood that you won’t like the paper.
- When assigning your order, we match the paper’s discipline with the writer’s field/specialization. Since all our writers are graduates, we match the paper’s subject with the field the writer studied. For instance, if it’s a nursing paper, only a nursing graduate and writer will handle it. Furthermore, all our writers have academic writing experience and top-notch research skills.
- We have a quality assurance that reviews the paper before it gets to you. As such, we ensure that you get a paper that meets the required standard and will most definitely make the grade.
In the event that you don’t like your paper:
- The writer will revise the paper up to your pleasing. You have unlimited revisions. You simply need to highlight what specifically you don’t like about the paper, and the writer will make the amendments. The paper will be revised until you are satisfied. Revisions are free of charge
- We will have a different writer write the paper from scratch.
- Last resort, if the above does not work, we will refund your money.
Will the professor find out I didn’t write the paper myself?
Not at all. All papers are written from scratch. There is no way your tutor or instructor will realize that you did not write the paper yourself. In fact, we recommend using our assignment help services for consistent results.
What if the paper is plagiarized?
We check all papers for plagiarism before we submit them. We use powerful plagiarism checking software such as SafeAssign, LopesWrite, and Turnitin. We also upload the plagiarism report so that you can review it. We understand that plagiarism is academic suicide. We would not take the risk of submitting plagiarized work and jeopardize your academic journey. Furthermore, we do not sell or use prewritten papers, and each paper is written from scratch.
When will I get my paper?
You determine when you get the paper by setting the deadline when placing the order. All papers are delivered within the deadline. We are well aware that we operate in a time-sensitive industry. As such, we have laid out strategies to ensure that the client receives the paper on time and they never miss the deadline. We understand that papers that are submitted late have some points deducted. We do not want you to miss any points due to late submission. We work on beating deadlines by huge margins in order to ensure that you have ample time to review the paper before you submit it.
Will anyone find out that I used your services?
We have a privacy and confidentiality policy that guides our work. We NEVER share any customer information with third parties. Noone will ever know that you used our assignment help services. It’s only between you and us. We are bound by our policies to protect the customer’s identity and information. All your information, such as your names, phone number, email, order information, and so on, are protected. We have robust security systems that ensure that your data is protected. Hacking our systems is close to impossible, and it has never happened.
How our Assignment Help Service Works
1. Place an order
You fill all the paper instructions in the order form. Make sure you include all the helpful materials so that our academic writers can deliver the perfect paper. It will also help to eliminate unnecessary revisions.
2. Pay for the order
Proceed to pay for the paper so that it can be assigned to one of our expert academic writers. The paper subject is matched with the writer’s area of specialization.
3. Track the progress
You communicate with the writer and know about the progress of the paper. The client can ask the writer for drafts of the paper. The client can upload extra material and include additional instructions from the lecturer. Receive a paper.
4. Download the paper
The paper is sent to your email and uploaded to your personal account. You also get a plagiarism report attached to your paper.
PLACE THIS ORDER OR A SIMILAR ORDER WITH US TODAY AND GET A PERFECT SCORE!!!