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Sickle cell disease thesis
Conclusion on sickle cell
Anatomy and physiology of sickle cell anemia
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Sickle Cell Anemia is an inherited blood disorder that is extremely challenging to live with. Its symptoms are many, with the most prominent being severe pain that can become unbearable to the point where hospitalization is required. Because sickle cell is a genetic disorder, a person is born with it and it is usually permanent. Unfortunately, there are risks and complications associated with this disease. However there are various treatment options for a patient with sickle cell and also support to help people understand and cope with this challenging disease.
Background
A patient with sickle cell has inherited the condition from both parents, and it all starts in the hemoglobin. Hemoglobin is “an iron-containing protein in red blood cells that reversibly binds to oxygen” (Reece, Urry, Cain, Wasserman, Minorsky, & Jackson, 2011). Obviously, hemoglobin is an important substance for oxygen to be transported in red blood cells. However, a patient with sickle cell has irregular hemoglobin cause by inherited genes. This “oxygen delivery” system cannot function properly because a gene
Sickle Cell Anemia has mutated. This mutation results in distorted, “sickle-shaped” cells, which often get trapped in the blood vessels of the body. Because of this, a sickle cell patient can have severe oxygen deprivation resulting in extreme pain. Oxygen is necessary to survive and thrive, but when a person doesn’t receive enough oxygen to any part of the body, the consequences are excruciating.
Although symptoms are not immediate, and usually arise after a child is four months of age, this disease is onset before birth, meaning that you are born with it. Like any disease or disorder, early diagnosis is important. Antibiotics and immunizations are...
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...ites, books, and other sources. The American Sickle Cell Anemia Association is a great resource for patients as well as Sickle Cell Advocates for Research and Empowerment.
Conclusion
Sickle Cell Anemia seems to be one of the hardest conditions to live with due to the severity of its symptoms and it can be an encumbrance to everyday life. Although this condition is hard to live with, it is possible to live with it. Thanks to the twenty-first century advancements, there is great medical care available to patients and many other resources and support groups to help families through this harsh reality of living with sickle cell. Perhaps one day there will be a readily available cure for this horrible disease. Until then, a patient with sickle cell should have a support system and take care to live a healthy life so that they can live their life to the fullest.
How is it diagnosed? • Usually before birth, around the second trimester, doctors can diagnose Sirenomelia through ultrasound or sonogram • Immediately after being born, doctors can tell if the baby has Sirenomelia through physical observation What are the possible complications? The severity of Sirenomelia varies among individuals. Many babies die during birth and those living can face long-term effects including: • Renal problems such as kidney failure or absence of either one or both kidneys • Cardiovascular problems such as Heart problems • Pulmonary problems include immature, small or abnormal lungs structures • Absent of bladder, large and small intestines and other organs • Abnormalities in upper extremity such as the brain, arms or spine • Inability to walk or move normally without the help of others • Present of urethral agenesis • Possible growth delay in the brain, arms or spine • Symptom How is it Treated?
While it is rare to have a diagnosis in children younger than 12 years of age, it does happen. Average age of onse...
Symptoms of a sickle cell are shortness of breath or fatigue and delayed growth in the development of children. Severe pain can be caused as a symptom when the blood gets stopped up in the vessel and causes the patient 's heart to pump slower, so people begin to feel pain in the body and feel out of breath.
During a short break of solitude from studying, I explored and came across that the environment in which most African Americans reside in has a high occurrence of malaria virus. The malaria virus disease is contagious and when it contaminates someone with sickle cell traits, it cannot survive on the external part of the human body so therefore the individual doesn’t develop the deadly malaria virus. While looking further into our class textbook on Human Genetics 11th Edition by Ricki Lewis, and this issue of sickle-cell among the African Americans, I
The first funding for sickle cell disease began thirty years ago the federal legislation dealing with sickle cell was accepted. This legislation present notab...
The problem is that when a red blood cell with hemoglobin S releases oxygen, the cell changes from the usual doughnut shape to a sickle or S shape, and becomes stiff rather than soft and flexible like normal red blood cells. This "sickled cell," which resembles a crescent moon, can't continue to glide through the small blood vessels as usual. Instead, it gets stuck in the tiny blood vessels, blocking the flow of blood and causing pain.
Due to the blockage of blood flow in the arteries sickle cell anemia causes many complications. The trademark of sickle cell anemia is a sickle cell crisis, which causes sudden serve pain. A common problem is acute chest syndrome, which is triggered by an infection or by blockage of blood vessels in the lungs. Which if left untreated, can be cause organ damage or even death.
The point of this lab report is to explain the study of the Hardy-Weinberg Equilibrium as it applies to sickle-cell anemia and malaria in Africa. The point of the experiment was to determine whether having a gene for sickle-cell anemia and one normal gene would make you immune to malaria.
Sickle cell anemia is the most common in hemoglobin mutation diseases due to mutation to beta-blobin gene. The substitution of valine for glutamate at position 6 of the beta chains paces a nonpolar residue on the outside of hemoglobin S. the oxygen affinity and allosteric properties of hemoglubin are virtually unaffected by this changes. However, this alternation markedly reduces the solubility of the deoxygenated but not the oxygenated form of hemoglobin. Thus, sicking occurs when there is a high concentration of the deoxygenated form of hemoglobin.
Sickle Cell Anemia is caused by a change in the chemical composition of the protein hemoglobin which is responsible for delivering oxygen throughout our bodies. Normal hemoglobin is found as a round shape, and is composed of four proteins – two alpha chains and two beta chains. The change that causes Sickle Cell Anemia occurs when an amino acid called valine is substituted for glutamic acid in both of the beta chains. This change in the composure of hemoglobin causes the shape to change when under certain conditions. Two of these conditions are low oxygen and dehydration. The hemoglobin of a person with Sickle Cell Anemia then becomes elongated and curved, hence the name sickle cell. When this happens many problems can occur, primarily blood clotting which leads to a lack of oxygen in body tissues. Other negative affects of Sickle Cell Anemia are a weakened heart because it is constantly overworked. Also, bone marrow is affected and bones become softer than usual. While there is no cure for Sickle Cell Anemia there is treatment. The primary goal is to reduce the frequency of the Sickle Cell Anemia crisis episodes and maintain enough red blood cells to keep body tissues healthy.
Do individuals X, Y, Z have Sickle Cell Anemia or Sickle Cell trait? In this investigation three DNA samples were tested to see if they had Sickle Cell or carry the Sickle Cell trait. Sickle cell Anemia is a disease of the red blood cells that is inherited from your parents. Sickle Cell is caused by point mutation in which a single base in the ꞵ-globin gene that results in the substitution of valine instead of glutamate in the amino acid chain. The acid change aggravates the blood cells and make them take a sickle shape and lose elasticity. The main purpose of Hemoglobin is to carry oxygen from the lungs to the body’s tissues. To carry out this function a healthy red blood cell has a hollowed circular cavity which allows them to hold nutrients
Individuals who inherited this disease from their parents do not possess the standard hemoglobin that should be contained in RBC. Hemoglobin is a protein present in RBC, which transports oxygen to all parts of the body (National Heart and Blood Institute, 2017). The disease which impairs the hemoglobin’s responsibility, prevents blood cells from receiving the sufficient oxygen, causes RBC to be sickle shaped. Sickle cell disease precedes to several painful health complications such as VOC (vaso- occlusive crises), which are severe pain recurring episodes, that can lead to irreversible organ damage. Sickle cell anemia causes red blood cells to hemolyze continuously through an individual’s lifetime… hemolysis is the breakdown of red blood cells (Krishnamoorthy, et al. 2017). An experimental study was conducted with SCD Townes mice to test a possible solution for sickle cell anemia. Throughout a seven-week span, mice orally conveyed dosages of 100 mg/kg of DMF. DMF known as dimethyl fumarate is small complex molecule and which binds and activates to enhance Nrf2 to enhance Hbf. “Nrf2 is a transcription factor that triggers cytoprotective and antioxidant pathways to limit oxidative damage, inflammation, and increases HbF” (Krishnamoorthy, et al. 2017). Fetal hemoglobin (Hbf) is the hemoglobin present in fetuses; it is responsible for the transportation of oxygen
Sickle Cell Anemia is caused by a change in the gene the genes and the environmental combine and the number of chromosomes change. For the sickle cell a trait hemoglobin S gene inherited from 1 parent and a regular gene is inherited, in the stomach, prenatal
Thrush is a common problem in infants and is easily treated. Most cases of thrush clear up within a week or two with treatment.
If you have Sickle Cell Disease, not the trait, it is something that you are going to have to live with for the rest of your life. The United states and the District of Columbia require all newborn babies to be Screened for the Sickle cell disease at birth to allow the parents to be aware of their child’s condition but there is no treating it. Maybe someday a doctor or scientist will find a way to cure sickle cell disease but as of right now, as of today there is no