Thalassemia Essay Example

Thalassemia Paper Beta Thalassemia Beta thalassemia is an inherited blood disorder characterized by the abnormal production of a blood protein called hemoglobin. This condition is caused by a mutation within the gene that is responsible for the healthy production of hemoglobin. In healthy people, hemoglobin carries oxygen to tissues and cells throughout the body. Patients with beta thalassemia do not have adequate levels of oxygen within the blood, which can cause anemia. There are two main types of beta thalassemia with symptoms that range from mild to severe. Beta-globin is produced by two genes, one gene from each parent. The severity of the condition correlates with the amount of normal beta-globin production. Beta Thalassemia Minor The individuals with thalassemia minor have only one copy of the beta thalassemia gene. These individuals are said to be heterozygous for beta thalassemia and will have mild anemia. This situation can vary closely resemble that with mild iron-deficiency anemia. However, people with thalassemia minor have a normal blood iron level. No treatment is necessary for thalassemia minor. In particular, iron is neither necessary nor advised. Beta Thalassemia Major The child born with thalassemia major has two genes for beta thalassemia and no normal beta chain gene. The child is homozygous for beta thalassemia. This causes a striking deficiency in beta chain production and in the production of HBA. The clinical picture associated with thalassemia major was first described in 1925 by the American pediatrician Thomas Cooley. Hense, the name Cooleys anemia in his honor. At birth the baby with thalassemia major seems entirely normal. Anemia begins to develop within the first months after birth. It becomes progressively more and more severe. We will write a custom essay sample on Thalassemia specifically for you for only $16.38 $13.9/page Order now We will write a custom essay sample on Thalassemia specifically for you FOR ONLY $16.38 $13.9/page Hire Writer We will write a custom essay sample on Thalassemia specifically for you FOR ONLY $16.38 $13.9/page Hire Writer Chromosome location The gene controlling beta chain production is located on the short (p) arm of chromosome 11 at position 15. 5. More precisely, The HBB gene is located from base pair 5,203,271 to base pair 5,204,876 on chromosome 11. Characteristics of the Disease Beta thalassema major is characterized by severe anemia that can begin months after birth. In the United States and other developed countries, beta thalassemia is identified and treated early and effectively. In untreated, beta thalassemia major can lead to severe tiredness, jaundice, and growth and developmental delay. The body attempts to compensate by producing more blood cells in the bone marrow. However, this is ineffective without the needed genetic instructions to make enough functioning hemoglobin. Instead, obvious bone expansion and changes occur that cause characteristics facial and other changes in appearance, as well as increased risk of fractures. Severe anemia affects other organs in the body such as the heart, spleen, and liver. This can lead to heart failure and enlargement of the the liver and spleen. When untreated, beta thalassemia major generally results in childhood death, usually due to heart failure. Fortunately, in developed countries diagnosis is usually made early, often before symptoms have begun. This allows for treatment with blood transfusion therapy, which can prevent most of the complications of the severe anemia caused by beta thalassemia major. A compelet blood count will identify low levels of hemoglobin and other red blood cell abnormalities that are characterized with beta thalassemia. Since thalassemia trait can sometimes be difficult to distinguish from iron deficiency, tests to evaluate iron levels are important. A hemoglobin electrophoresis is a test that can help identify the types and quantities of hemoglobin made by an individual. This test uses an electric field applied across a slab of gel-like material. Hemoglobins migrate through this gel at various rates and to specific locations, depending on their size, shape, and electrical charge. In addition, isoelectric focusing and high-performance liquid chromatography (HPLC) use similar principles to separate hemoglobins and can be used instead of or in various combination with hemoglobin electrophoresis to determine the types and quantities of hemoglobin present. Hemoglobin electrophoresis results are usually within the normal range for all types of alpha thalassemia. However, hemoglobin A2 levels and sometimes hemoglobin F levels are elevated when beta thalassemia disease or trait is present. Hemoglobin electrophoresis can also detect structurally abnormal hemoglobins that may be co-inherited with a thalassemia trait to cause thalassemia disease or other types of hemoglobin disease. Sometimes DNA testing is needed in addition to the screening tests. This can be performed to help confirm that diagnosis and establish the exact genetic type of thalassemia. Treatment or Management of the Condition The most common treatment of all major forms of thalassemia is red blood cell transfusions. These transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that the pateints body needs. While thalassemia patients were given infrequent transfusions in the past, clinical research led to a more frequent program of regular blood cell transfusions that greatly improved the patients quality of life. Today, most patients with a major form of thalassemia receive red blood cell transfusions every two to three weeks, amounting to as much as 52 pints of blood a year. Because there is no natural way to the body to eliminate iron, the iron in the transfused blood cells builds up in a condition known as iron overload and becomes toxic to tissues and organs, particularly the liver and heart. To help remove excess iron, patients undergo iron chelation therapy, in which a drug introduced into the body which binds with excess iron and removes it through the urine or stool. In 2005, FDA approved an oral chelator, Exjade. This is a pill which is dissolved in water or juice once a day. Molecular Genetics Beta thalassemia is caused by mutations in the HBB gene. More than 250 mutations in the HBB gene have been caused beta thalssemia. Most of the mutations involve a change in single DNA building block within or near the HBB gene. Other mutations insert or delete a small number of nucleotides in the HBB gene. HBB gene mutations that decrease beta-globin production result in a type of the condition called beta-plus thalssemia. Mutations that prevent cells from producing any beta-globin result in beta-zero thalssemia. Without proper amounts of beta-globin, sufficient hemoglobin cannot be formed. A lack of hemoglobin disrupts the normal development of red blood cells. A shortage of mature red blood cells prevents these cells from carrying and delivering enough oxygen to satisfy the body’s energy needs. A lack of oxygen in the body’s tissues can lead to poor growth, organ damage, and other health problems associated with beta thalassemia. Genetic Testing DNA analysis is available to investigate deletions and mutations in the beta-globin producing genes. Family studies can be done to evaluate carrier status and the types of mutations present in family members. DNA testing is not routinely done but can be used to help diagnosis thalassemia and to determine carrier status. Other relevant information Being a carrier of the disease may confer a degree of protection against malaria, as it is quite common among people of Italian and Greek origin, and also in some African and Indian regions. This probably by making the red blood cells more susceptible to the less lethal species Plasmodium vivax simultaneously making the hosts red blood cell environment unsuitable for the more lethal strain Plasmodium falciparum. This is believed to be a selective advantage for patients with the various thalassemia traits. More information can be found at: * Medline Plus * Genetics Home Reference * Cooleys Anemia Foundation References Beta Thalassemia. Genetics Home Reference. U. S. National Library of Medicine. July 2009. April 25, 2010. http://ghr. nlm. nih. gov/condition=betathalassemia Beta Thalassemia. Lucile Packard Childrens Hospital. 2010. April 25, 2010. http://www. lpch. org/DiseaseHealthInfo/HealthLibrary/hematology/thalbeta. html About Thalassemia. Cooleys Anemia Foundation. 2010. April 25, 2010. http://www. thalassemia. org/index. php? option=com_content;view=article;id=19;Itemid=27 Beta Thalassemias. US Department of Health ; Human Services. National Institute of Health. 2010. April 25, 2010. http://www. nhlbi. nih. gov/health/dci/Diseases/Thalassemia/Thalassemia_WhatIs. html Mormino, Vincenzo. Thalassemia in Sicily. Best of Sicily Magazine. 004. April 25, 2010. http://www. bestofsicily. com/mag/art133. htm Thalassemia. Prathama Blood Center. 2010. April 25, 2010. http://www. prathama. org/thalassimias. php Thalassemia. Disease Information. Iron Overload. 2010. April 25, 2010. http://www. ironoverloadme. com/hcp/disease_information/thalaseemia. html When Your Child Has Beta Thalassemia. Mount Nittany Medical Center. 2010. April 25, 2010. http://www. mount nittany. org/wellness-library/healthsheets/documents? ID=11943 Beta Thalassemia. Access DNA. 2010. April 25, 2010. http://www. accessdna. com/condition/Beta-Thalassemia/60

buy custom First Love and Last Rites essay

buy custom First Love and Last Rites essay The First Love, Last Rites is a story by McEwan. The story is a story about Sissel and Joey who live together in a shabby room in the forth floor of an empty harbor building somewhere in an industrial city in England. Joey and Sissel share an unappealing one room house. They spend most of their time talking, asking questions about their pasts-and above all exploring each others bodies in bed. The only interruption in their rustic affair comes from Adrian, Sissels younger and lonely brother. Annoyed by his noisy presence, whenever the couple wants to get rid of Adrian, they start stripping and making love. Their relationship later begins to founder reaching its high point when a big rat comes through the wall into their dirty and untidy room. The narrator killed the rat, an action that seems to mark a significant change in their lives. First Love, Last Rites is a collection of very traditional, rather conservative stories as depicted by the kind of events it depict, the characters involved, and the issues generated by the relationships. The kind of events depicted in the story is traditional. The story depicts the fascinating character of the adolescents. They are close to childhood and yet are constantly baffled and irritated by the initiations into what the adulthood entails. The Concept First Love In McEwan's short story First Love, Last Rites, he uses the two main characters Joey and Sissel to build the theme of love. By using the term first love, the author of the story refers to the initial sexual encounter between the two teenagers in the story (McEwan 117). The two are in the prime of lovemaking to an extent that they are not even able to clean their house. The concept of the first love refers to the fact that the act of lovemaking was absolutely new to the adolescents. In fact Sissel actually admits that, Everything about women was new to me. It was thus his first experience with sexuality. She says: it was new to me, all this . The thrilling and exciting experience of their love makes them exult in each others bodies. They make love passionately until their bodies are slack with this romantic encounter and discovery (McEwan 86). The true meaning of this first love can be pictured and so precisely illustrated by the fact that two spend all their time in making love with no work or school responsibilities (Jungmann 4). All they do is sharing a steamy romance in a lazy shack. They seem lost in their own private universe, moving through day-to-day life permanently joined at the hand and often mouth. They seem oblivious to the fact that they share the planet with other people. The only thing these lovers are abe to see is each other. The scenes spend plenty of time with the young lover to create an intense atmosphere of infatuation. Joey is a Brooklyn native who has left his home for Louisiana may be because he was kicked out of the borough for not developing an accent. Sissel also comes from a broken family. He r mother and father have split up for unspecific reasons. Joey plays Sissel with a mysterious detachment and a knowing whimsy that things wont last long, but the true motivation are never developed. Later, the two characters become unable to communicate with each other resulting in a heavy symbolic climax with a pesky rat. The book gives an intimate drama about the idyllic romance of two misfits and its inevitable sad aftermath. Dissecting on the essential and universal ingredients of first adolescent love, First Love is good at illustrating how initial thrills of freedom and lust gradually turn into confusion, fear and anxiety, particularly when the grand amour concerns innocent young stars. The effects of divorce on both parents and children are also conveyed effectively. The young couple is used effectively to show the fine line between intense and quiet feelings, sexual desire and alienation. The concept of Last Rites The word rite in the title can be taken to allude to the rights of passage that describes some rituals which help young persons in the process of initiation to take an adult status or adult roles (Jungmann 4). Last Rites is represented in McEwens story by two aspects. The first aspect is the fact that the narrator is experiencing sexuality for the first time. This reveals individual attempting to negotiate the tricky passage into sexual and social maturity (Ellam 11). The second is depicted in the transformations that occur in the actors ways of life. These aspects depict an initiation that seems to take the narrator and his friend from the adolescent to adulthood. From the beginning of the story the young lovers seem neither aware nor care about their external world. They isolate themselves in a room with no responsibility. All they care for is making love. However, they experience a significant change about their knowledge in the world and that of themselves and begin to adjust to fit in the society. First Love, Last Rites is told by a narrator at the brink of adulthood. They are at the age of eighteen and nineteen though with no responsibility. The narrator confesses that even the act of lovemaking was absolutely new to him. In fact Sissel also admits that about women was new to her. It was thus their first experience with sexuality. She says: it was new to me, all this. However, the major transformation in his relationship with the silent, guarded girlfriend later becomes strangely stagnant. The two lovers in First Love, Last Rites start to live in a simultaneously inert and decaying world. The narrator reports that Sissel grew tired of her records, and her foot rot spread from one foot to the other worsening their already smelly room. Their room begins to stink and they make love less. The rubbish from milk bottles, grey sweating cheese, butter rappers, yogurt cartons, over-ripe salami that they could not bring out themselves to carry away gathered around them. This condition brought us to a subplot about a large rat scratching on the wall of the lovers apartment, threatening to burst through at any minute. The rat can be interpreted to represent Joeys doubts about his relationship with Sissel. This means that at the end of the story, when he kills the rat, he is destroying his personal fears. The turn of events that leads to the transformation of the characters began when the couple begins to argue with one another. The feeling of mistrust and mutual frustration later tarnishes their passionate affair. Before long, Joey and Sissel stop making love and cease communicating on any level. However, the two seemed to have learnt after their encounter with a pregnant rat. Their transformation into adult world is revealed when the two later seem to be ready to take on their responsibility as adults and members of the larger society. Though Sissel is estranged from her parents, she now wants Joey to meet her father, Henry, a talkative Vietnam vet. She also cleanses their room which is a sign of taking on responsibility. Joey also agrees to meet Sissels father who insisted on knowing whether he sleeps with his daughter. Somehow, the two men became partners in a bizarre eel-catching business. This is a major transformation as the initially irresponsible and isolated adolescent takes on the role of the young adult. He begins to be responsible becoming relevant in the larger society. For a moment he found meaning to life and was excited. Generally, most of the stories in First Love, Last Rites can be described as stories of initiation. It is certainly the narrators fist experience of sexual intercourse in Homemade and Butterflies. The same is the case in Henrys induction into the confused world of adult games and sexuality and also in childhood friendship in Disguises. Even Last Day of Summer depicts a further initiation of the protagonist-narrator into the world of sadness and loss. All these descriptions point to a form of passage of rites. Buy custom "First Love" and "Last Rites" essay

Impact of an ageing population on the business environment and on Essay

Impact of an ageing population on the business environment and on business organization - Essay Example This conflict is therefore a major concern in the minds of economists and politicians alike, as this will put increasing pressure on the budget, and of a more fundamental concern, the likely slowdown in economic growth. With this conflict getting more and more fuelled by critics, Peter Costello has been forced to step in and put forward a resolution to this dispute. He has recently proposed a campaign to stop people from retiring early, allowing them to work past the current age restriction of 65. From the viewpoint of the individual there is a double gain. The longer you work before retiring, the more time you have to keep adding to your superannuation and your retirement savings. But, on top of that, the less time you spend in retirement, the longer your retirement savings will last you. (Barnett 2000, 69-74) From the viewpoint of the federal budget, the more people save before they retire and the later they retire after 65, the less the Government has to pay them in age pension payments and the less it has to spend on health care concessions and such like. If this policy is embraced by the aged, (who should very well be concerned about their financial futures), it will solve many of other conflicts in our society. One of these is that of elder abuse. Where the elderly are forced to take care of their grandchildren while the parents go out and endeavour careers. If the aged are working, then this issue will simply not arise. Also, due to their job commitments, muggings and violence against the aged will decrease and this will lead to greater satisfaction of life, and their general well being. (Tay 2001, 42-49) Also if they spend more time out in the workforce, they may be more susceptible to changes in technology as their work may require simple training in computer technologies such as the Internet. This will reduce the conflict of technology, in their future, enhancing their lifestyle as they take advantage of timesaving (maybe body-saving in their case) features of the Internet, like Internet banking. Also the issue of reluctance of employers to employ older people will significantly reduce. As they will KNOW that these people have 5-10 years extra left in them, hence they WILL give them that promotion and the respect which the aged so badly desire. It sometimes seems as though the aged have more than their share of critical emotional problems. They also sometimes have more than their share of psychological help at their disposal. And almost every helping procedure that effectively copes with human concerns is successfully applicable to the problems of the aged. Psychotherapy can be helpful to old people. Family therapy 'works'. Poetry and art therapy 'work'. Given the skill and sensitivity of the clinician - and the willingness to provide a service to an old-person - therapies of many types can be successful. (Barnett 2000, 69-74) But, although resolving many financial and emotional issues for the aged, this policy still doesn't account