Sickle cell anemia

Sickle cell genus AnemiaAbstractSickle cell genus Anemia is an inherited argument swage characterized in the main by chronic anaemia and periodic episodes of pain. The underlying problem involves haemoglobin, a component of scarlet transmission line cells. Hemoglobin molecules in each red blood cell carry oxygen from the lungs to body organs and tissues and bring carbon dioxide back to the lungs. In reaping hook cell genus Anemia, the hemoglobin is defective. After hemoglobin molecules perpetrate up their oxygen, some may cluster together and form long, rod-the likes of structures. These structures cause red blood cells to become stiff and assume a reap hook shape. foreign normal red cells, which atomic number 18 usuall(a)y smooth and donut-shaped, sickle red cells washbasinnot squeeze through small blood vessels. Instead, they stack up and cause blockages that foray organs and tissues of oxygen-carrying blood. Normal red blood cells live around 120 days in the bloo dstream, but sickle red cells die after about 10 to 20 days. Because they supportnot be replaced fast enough, the blood is chronically short of red blood cells, a condition called anemia. Sickle cell anemia affects millions passim the world. It is particularly common among people whose ancestors come from Africa South America, Cuba, Central America Saudi Arabia India and Mediterranean countries such as Turkey, Greece, and Italy.Sickle cell anemia unsoundness The inherited haemoglobinopathies be a group of disorders that include thalassaemia and sickle-cell disease. These diseases are a major public health problem in the Mediterranean area, the mediate East, the Indian subcontinent, Asia, tropical Africa and the Caribbean. However, because of population flow, they are now widespread and occur in Europe and North and South America. According to the World Health Organization, the fierce estimates of affected individuals indicate that 240 million people are heterozygous for these disorders and at least 200000 lethally affected homozygotes are born annually, approximately equally divided amidst sickle-cell anaemia and thalassaemia syndromes. This research papers about the definition, causes, types, signs and symptoms, complications, diagnosis and word of sickle cell disease. Also, this paper talks about the general guidelines to keep the sickle cell patient healthy and recommendation that the patient and families should watch for it.1-Definition Sickle cell anemia (uh-NEE-me-uh) is a overserious disease in which the body makes sickle-shaped red blood cells. Sickle-shaped means that the red blood cells are shaped like a C. Normal red blood cells are disc-shaped and look for like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain the protein hemoglobin (HEE-muh-glow-bin). This iron-rich protein gives blood its red color and carries oxygen from the lungs to the await of the body. Sickle cells contai n abnormal hemoglobin that causes the cells to have a sickle shape. Sickle-shaped cells dont move easily through your blood vessels. Theyre stiff and sticky and bunk to form groups and get stuck in the blood vessels. (Other cells also may play a role in this grouping process.) The groups of sickled cells block blood flow in the blood vessels that lead to the limbs and organs. Blocked blood vessels can cause pain, serious transmittances, and organ damage.2- Causes Sickle cell anemia is an autonomic recessive genetic disorder caused by a defect in the HBB gene, which codes for hemoglobin. The presence of two defective genes (SS) is needed for sickle cell anemia. If each parent carries one sickle hemoglobin gene (S) and one normal gene (A), each pincer has 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. Two of the most common variations of the sickle cell gene areA- Sickle cell mark A person with the sickle cell trait is carrying the defective gene, but also has some normal hemoglobin. Individuals with sickle cell trait are usually without symptoms of the disease. Mild anemia may occur. Under blood-and-guts stressful conditions, exhaustion, hypoxia (low oxygen), and/or operose infection, the sickling of the defective hemoglobin may occur and result in some complications associated with the sickle cell disease.B- Sickle cell anemia A person with sickle cell anemia has most or all of the normal hemoglobin replaced with the sickle hemoglobin. It is the most common and most severe form of the sickle cell variations. These individuals suffer from a variety of complications due to the shape and thickness of the sickle cells. Due to the decreased number of hemoglobin cells go in the body, severe and chronic anemia is also a common characteristic.3- Sign and Symptoms The clinical course of sickle cell anemia does not prolong a single pattern some patients have mild symptoms, and some have very severe symptoms. The basic problem, however, is the same the sickle-shaped red blood cells tend to get stuck in narrow blood vessels, blocking the flow of blood. These results in the following conditions A- Hand-foot syndrome 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. Fatigue, paleness, and shortness of breath These are all symptoms of anemia or a shortage of red blood cells. B- ache that occurs suddenly in any body organ or articulatio A patient may experience pain wherever sickle blood cells block oxygen flow to tissues. The frequency and amount of pain vary. most patients have painful episodes (also called crises) slight than once a year, and some have as many as 15 or more episodes in a year. Sometimes pain lasts only a few hours sometimes it lasts several w eeks. For severe continuous pain, the patient may be hospitalized and treated with painkillers and intravenous fluids. Pain is the principal symptom of sickle cell anemia in both children and adults.C -Eye problems The retina, the film at the back of the eye that soak ups and processes visual images, can miss when it does not get enough nourishment from circulating red blood cells. Damage to the retina can be serious enough to cause blindness.D- Yellowing of skin and eye These are signs of jaundice, resulting from rapid breakdown of red blood cells. Delayed growth and puberty in children and often a slight build in adults The in arrears rate of growth is caused by a shortage of red blood cells4- Complications A-Infections In general, both children and adults with sickle cell anemia are more reasonable to infections and have a harder time fighting them off. This is the result of spleen damage from sickle red cells, hence preventing the spleen from destroying bacteria in the blood . Also the organise marrow gets enlarged because of the increasing need to produce red blood cells. Infants and young children especially are suspectible to bacterial infections that can kill them in as little as 9 hours from onset of fever. Pneumococcal infections used to be the principal cause of death in children with sickle cell anemia until physicians began routinely giving penicillin on a preventive basis to those who are diagnosed at birth or in previous(predicate) infancyB- Stroke Defective hemoglobin damages the walls of red blood cells, causing them to stick to blood vessel walls. The resulting narrowed or blocked small blood vessels in the brain can lead to serious, life-threatening strokes, primarily in children.C-Acute chest syndrome Similar to pneumonia, this life-threatening complication is caused by infection or trapped sickle cells in the lung. It is characterized by chest pain, fever, and an abnormal chest X-ray.5- Diagnosis Early diagnosis of sickle cell anemia is critical so children who have the disease can receive proper treatment.Blood quiz More than 40 states now perform a simple, inexpensive blood test for sickle cell disease on all newborn infants. This test is performed at the same time and from the same blood samples as other routine newborn-screening tests. Hemoglobin electrophoresis is the most widely used diagnostic test. If the test shows the presence of sickle hemoglobin, a second blood test is performed to confirm the diagnosis. These tests also tell whether or not the child carries the sickle cell trait.6- Treatment Although there is no cure for sickle cell anemia, doctors can do a great deal to help patients, and treatment is constantly being improved. Basic treatment of painful crises relies heavily on painkilling drugs and oral and intravenous fluids to reduce pain and prevent complications.A- Blood Transfusions Transfusions correct anemia by increasing the number of normal red blood cells in circulation. They can als o be used to treat spleen enlargement in children before the condition becomes life-threatening. Regular transfusion therapy can help prevent recurring strokes in children at high risk.B-Oral Antibiotics Giving oral penicillin twice a day beginning at 2 months and continuing until the child is at least 5 years old can prevent pneumococcal infection and early death. Recently, however, several new penicillin-resistant strains of pneumonia bacteria have been reported. Since vaccines for these bacteria are in yieldive in young children, studies are being planned to test new vaccines.C-Hydroxyurea The first effective drug treatment for adults with severe sickle cell anemia was reported in early 1995, when a study conducted by the National Heart, Lung, and Blood Institute showed that daily doses of the anticancer drug hydroxyurea reduced the frequency of painful crises and acute chest syndrome. Patients taking the drug needed less blood transfusions. Regular health maintenance is critical for people with sickle cell anemia. Proper nutrition, heavy hygiene, bed rest, protection against infections, and avoidance of other stresses all are important in maintaining good health and preventing complications. Regular visits to a physician or clinic that provides comprehensive care are necessary to identify early changes in the patients health and ensure immediate treatment. Today, with good health care, many people with sickle cell anemia are in reasonably good health much of the time and living productive lives. In fact, in the past 30 years, the life expectancy of people with sickle cell anemia has increased. What can be done to help prevent these complications? Sickle cell patient should be under the care of a medical team that understands sickle cell disease. All newborn babies detected with sickle cell disease should be placed on daily penicillin to prevent serious infections. All of the puerility immunizations should be given in addition to the pneumococcal vaccine. Parents should know how to check for a high temperature because this signals the need for a quick medical checkup for serious infection. The following are general guidelines to keep the sickle cell patient healthy Taking the vitamin folic acid (foliate) daily to help make new red cells Daily penicillin until age six to prevent serious infection Drinking plenty of water daily (8-10 glasses for adults) Avoiding as well hot or too cold temperatures Avoiding over exertion and stress Getting a sufficient amount of rest Getting regular check-ups from knowledgeable health care providers Patients and families should watch for the following conditions that need an immediate medical evaluation Fever Chest pain Shortness of Breath Increasing tiredness Abdominal swelling preposterous headache Any sudden weakness or loss of feeling Pain that will not go away with home treatment Pianism (painful hard-on that will not go down) Sudden vision change.Conclusion To conclude, sickle c ell anemia like other chronic life-threatening disease can cause this inherited to patient and family members joining where members share common experiences and problems can reveal this situation because it gets better understanding and management of the disease. There is no cure, hence nurses should understand the actions that can prevent or relieve symptoms in order to meet the challenges of caring for patients with sickle cell disease and helping them to minimize its effect on their lives.References Brunner and Suddarth , Medical-Surgical Nursing, (2004), 10th edition http//www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_Summary.html http//www.mayoclinic.com/health/sickle-cell-anemia/DS00324 http//www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhatIs.html http//www.kidshealth.org/teen/diseases_conditions/genetic/sickle_cell_anemia.html http//www.medicinenet.com/sickle_cell/article.htm Desai, D. V. Hiren Dhanani (2004). Sickle Cell Disease History And Origin. The Internet Journal o f Heamatology 1 (2). http//www.ispub.com/ostia/index.php?xmlFilePath=journals/ijhe/vol1n2/sickle.xml. Pearson H (Aug 1977). Sickle cell anaemia and severe infections due to encapsulated bacteria http//www.nlm.nih.gov/medlineplus/meningitis.html. http//www.emro.who.int/Publications/EMHJ/0303/03.htm