...Thalassemia is a blood disorder that has a deadly effect on the human body. It is an inherited blood disorder that affects the body's ability to make healthy haemoglobin, the iron-rich protein found in red blood cells. Haemoglobin is needed to carry oxygen to all parts of the body, and carbon dioxide to the lungs to be exhaled. The following essay will be discussing Thalassemia and the results of genetic testing. This disorder is passed on through genes and it is vital to understand how this disease can affect the future generations of families. It is caused by either a genetic mutation, or a deletion of certain key genes. T t T TT Tt t Tt tt The two types of Thalassemia are Thalassemia Major and Thalassemia Minor. Thalassemia Major shows symptoms and occurs when both the recessive genes carry the disorder, which results in symptoms. Thalassemia Minor occurs if you receive the bad gene from only one parent. People with this type are only carriers of the disease. Most of the time, they do not have symptoms. If both parents are carriers of the disease then their off spring has a 50% chance that they will carry the gene, a 25% chance that the child will not have the gene and a 25% chance that the child will suffer from the disease. Some of the symptoms for Thalassemia are: fussiness, paleness, frequent infections, poor appetite, failure to thrive, jaundice (yellowing of the skin and whites of the eyes) and enlarged organs. Diagnostic tests can detect many genetic conditions...
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...SUBJECT CODE : MPU 3323 SUBJECT TITLE : PERSONAL HEALTH MANAGEMENT PROGRAMME : BAAF CURRENT YEAR : YEAR 2 SEM 1 INTAKE : SEPT 2014 NAME/SEGI ID/UOG ID : SHAMITA A/P KASINATHAN (SCSJ-0019803/000862417) LECTURER’S NAME : MISS BALWINDER KAUR LEARNING CENTRE : SEGI COLLEGE SUBANG JAYA SUBMISSION DATE : 26 OCTOBER 2015 INTRODUCTION TO HEREDITARY DISEASES Heredity can be characterized as the investigation of what reasons likenesses and contrasts between living beings. Another meaning of is that the procedure by which mental and physical attributes are gone by folks to their kids; these qualities in a specific individual. Various extreme sicknesses happen through out the world however for the most part few are influenced by every one, as they arte essentially connected to certain families in particular regions. Some such maladies, be that as it may, are spread overall and influence numerous. Manifestations can be available during childbirth or get to be show sometime down the road and they might likewise differ extensively among individuals with the same analysis. Under typical circumstances, for example, hurtful allele would have been killed from a populace as the influenced people would kick the bucket before repeating. On the other hand, through the illness is uncommon in many parts of the world, it is tranquil basic in West Africa where jungle fever is pervasive. This...
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...Blood Disorders: Thalassemia, and Myeloma When something is wrong with your blood it can affect in your health. Your blood his three deferent types of blood cells: Red blood cells, which carry oxygen in your blood tissues. White blood cells, which fight infections, and Plates, it helps to coagulate. Unfortunately, some people have an abnormal function of blood. That why is important for you to know about some common blood disorders? This paper will focus on the causes, symptoms, and treatments of Thalassemia and Myelomas. First blood disorders disease is Thalassemia. Thalassemia: is a genetic blood disease. If you have it in your family you may have it two. There is primary cause of thalassemia. The first cause is that body produce less healthy red blood cells and that can lead to less hemoglobin. Thalassemia is also caused by abnormal cell structures. People with thalassemia may show variety of symptoms. The most common symptoms are fatigue, shortens, of breath and paleness. There are two common ways to treat thalassemia. First treatment is that potion can have a blood transfusion or bone marrow transplant. The second treatment is that the potion can replace sick genes. Usually people who are born in Middle East or GREAL have this disease can have this disease Also there is another common disease called Myeloma. Myeloma is cancer of the plasma cells, and if you have a family history with this disease you can have it two. There are two...
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...excessive iron in liver in the patients who are 10 years and older and suffering from Non Transfusion Dependent Thalassemia syndrome in which iron and serum ferritin gets overloaded in the liver and can cause toxicity. It is also used in patient suffering from sickle cell diseases. Approval Details: This drug is manufactured by Novartis Pharmaceutical Cooperation (Oncology Department). The New Drug Application was submitted under section 505b of Federal Food, Drug and Cosmetic Act on May 30th, 2014. FDA approved the product under accelerated approval regulations 21 CFR314.510 and requested further clinical trials and well controlled studies to explain the clinical benefit of this drug. FDA also requested to submit the post marketing requirements under section 505 (o) and the promotional material. Dosage and Administration: Initial dose is 14 mg/kg for transfusion iron overdose and...
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...Her early years of life were quite unusual as she went to a catholic school, and was first out of her sibling to attend college. She studied at the University of Toronto where she took her pre- medicals. Her final year of her internship was spent at sick children’s, working with patients that have she thalassemia. She worked under Mel Freeman, the man that taught her everything she needs to know about how to treat patients with thalassemia. Nancy got close to her patients and made them feel as if they were at home. They would describe her as hyper or stoic (Miriam 17). Waiting at the Toronto Hospital for Sick Children was an opportunity that would serve at the time to be Olivieri’s greatest defeat to help the sick children. In 1987 Nancy Olivieri left Boston to settle back in Toronto, where she got hired to work on the clinical side. Although, she would be a faculty of the University, she was expected to...
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...Anatomy & Physiology II Lab Practical 2 A Case of Iron Deficiency Anemia Dolores Welborn is a 28 year old in her second trimester of pregnancy with her first child. Recently she noticed she would get tired easier, short of breath from even the slightest exertion and she had periods of light-headedness. She notices her legs were cramping, a desire to eat ice and her tongue was sore. She sought an appointment with her physician and throughout her exam they find that she has tachycardia (an abnormally rapid heart rate), pale gums and nail beds, and her tongue is swollen. Her physician diagnosed her with anemia due to iron deficiency and an oral iron supplement was prescribed. Below are some questions with the explanation of why this might have happened. 1. Describe the structure of a molecule of hemoglobin and explain the role played by iron in the transport of oxygen. Found in red blood cells, hemoglobin is a protein that carries oxygen molecules and carbon dioxide molecules throughout the body and are responsible for making the red blood cells red. Made up of red heme pigment bound the protein globin it makes up the hemoglobin. Hemoglobin consists of four subunits, two alpha and two beta polypeptide chains and a non-protein heme group, which is an assembly of cyclic ring structures surrounding an iron ion that is surrounded by a nitrogen atom. A hemoglobin molecule can transport four molecules of oxygen because each iron atom can combine reversibly with...
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...Demographics The exact number of people in any country with anemia is difficult to determine because the disorder often goes undiagnosed. According to the National Heart, Lung, and Blood Institute (NHLBI), anemia affects more than 3 million Americans. Other sources estimate that 4% of men and 8% of women in the general populations of Canada, the United States, and Western Europe have mild anemia. It is thought that the rates of anemia are 2-5 times higher in the developing countries. According to the World Health Organization (WHO), iron deficiency is the most important nutritional disorder in the world. WHO, estimates that 80% of the world's population may be iron deficient. The prevalence of vitamin B12 deficiency among the geriatric population is estimated at 5-15%. Although the prevalence of anemia is greater in women than men aged less than 75, by age 75, male prevalence surpasses female prevalence by about 5%. Anemia can be mild, moderate, or severe enough to lead to life-threatening complications. More than 400 different types of anemia have been identified, many of which are rare. Iron deficiency anemia The onset of iron deficiency anemia is gradual and, at first, there may not be any symptoms. The deficiency begins when the body loses more iron than it derives from food and other sources. Because depleted iron stores cannot meet the red blood cell's needs, fewer red blood cells develop. In this early stage of anemia, the red blood cells look normal but they are...
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...Description of Sickle Cell Disease Sickle cell disease comprises of red blood cell disorders whose main feature is abnormal hemoglobin in the red blood cells. Hemoglobin is an oxygen carrying protein in the red blood cells (Peterson, 2008). The abnormality of the hemoglobin is caused by a mutation in a gene of the hemoglobin protein. This abnormality hinders the proper formation globin genes of the hemoglobin molecules resulting in abnormal hemoglobin that may take the forms of “S” hemoglobin or “SC” hemoglobin or “beta-thalassemia” hemoglobin as noted by (Rees, Williams & Gladwin, 2010). Types of Sickle Cell Disease The disorders; sickle cell anemia disease (caused by “S” hemoglobin), “SC” disease (caused by “SC” hemoglobin and “S-beta thalassemia” (caused by “beta-thalassemia” hemoglobin) are collectively referred to as sickle cell disease (Rees et al, 2010). The most common form of Sickle cell disease is the Sickle cell anemia. Sickle beta-thalassemia is less common but can be either mild or severe while hemoglobin S-C disease is milder than Sickle cell anemia. Inheritance of Sickle...
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...gene to their children and, when one parent has sickle cell trait and the other parent has normal hemoglobin the child may inherit. How do you know if you have sickle cell trait? You can easily get a blood test form most hospital, medical centers and doctor offices. When you get the blood test, it determines if you have sickle cell trait. As in women, they can find out if they have sickle cell traits during their pregnancy to find out if the child is going to have the trait or the disease. There are three main type of sickle cell disease. Hemoglobin SS disease, Hemoglobin SC disease, and Hemoglobin Sb (beta) thalassemia disease. People with Hemoglobin SS have two copies of the hemoglobin S gene. If you have the Hemoglobin SC disease you have one copy of the hemoglobin S gene and one copy of the hemoglobin C gene. The last one is Hemoglobin Sb (beta) thalassemia disease which...
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...Chromosome (11p15.4 specifically and its locus MIM number is141900), provides “Instructions “ for making the beta globin but unfortunately nothing in life is perfect and mutations are bound to occur. Various versions of Beta Globin result from different kinds of mutations in the HBB gene. Some mutations in the HBB gene lead to abnormal versions of beta globin such as hemoglobin C (HbC) and hemoglobin E (HbE). HBB gene mutations can also result in unusually low levels of beta-globin; this abnormality is called beta thalassemia .One particular mutation produces the abnormal HbS Beta globin. People with sickle cell disease, at least one of the beta globin subunits in hemoglobin are replaced with hemoglobin S. For example, people with sickle hemoglobin C (HbSC) disease have hemoglobin molecules with hemoglobin S and hemoglobin C instead of beta globin If mutations that produce Hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S-beta thalassemia (HbSBetaThal). In people with Sickle Cell Anemia, both Beta Globin subunits of Hb are replaced with HbS. Since both Beta Globin Subunits of Hb must be replaced, Sickle Cell Anemia is considered as an Autosomal Recessive disease. That means that in order for the Chromosome to be infected, both parents must pass this trait to their offspring. This is the effect at the DNA Level This is the effect at...
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...This result in the substitution of glutamic acid that is normally the sixth amino acid in the beta globin polypeptide chain to valine. There are two forms of Sickle cell disease, the severe form, thalassemia major, results from a homozygous mutation in the beta globin gene. Whereas, thalassemia minor, is heterozygous for the mutation. Individuals with the disease have inherited anemia leading to fatigue and weakness. New reports have been published and proven that people with this disease are also resistant to the malaria...
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...but many most likely do not know how it exactly works. When looking at sickle cell blood cells you can tell the differences between normal blood cells and sickle cell blood cells. Sickle cell blood cells, are crescent shaped, normal cells are more circular. Sickle cell starts off by people with sickle cell trait have red blood cells that have normal hemoglobin A, and abnormal hemoglobin. The abnormal hemoglobin is called hemoglobin S. People with sickle cell trait have more hemoglobin A than hemoglobin S. They have enough hemoglobin A to help their red blood cells carry oxygen to the body. There are three common types of sickle traits are, Sickle Cell Anemia (SS), Sickle-Hemoglobin C Disease (SC), and Sickle Beta-Plus Thalassemia and Sickle Beta Thalassemia. How exactly does someone get sickle cell? Sickle is a hereditary trait. For example, my aunt has the trait and my mom does not. My sister and I likewise do not have the trait but there is a good possibility that one of our children can. My aunt met someone else who also has the sickle cell trait and they had two children. Only one of their children has the sickle cell disease. Everyone one in four children will get the sickle disease. If one parent has sickle cell disease and the other parent doesn't have the disease or trait then none of their children will have the disease but will have the trait There can be several complications starting...
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...The Factors that Affect Health Status and Patterns of Ill Health P3: Describe current patterns of health and how they are monitored – Patterns of ill health in the UK are monitored through the use of statistics. The UK National Statistic organisation is responsible for producing these statistics in order to illustrate and identify patterns of ill health within the UK. Government statistical departments play a vital role in identifying and monitoring patterns of ill health in the UK, of which include: • The Department of Health • Health and Safety Executive • NHS Information Centre for Health and Social Care Statistics can be collected from records such as birth certificates, the death register and hospital admissions records. Records can be used for further analysis in order to gain more specific information, for example the weight of a new-born baby, or the reason an individual was admitted into hospital. The government has made the use of having these records available a legal requirement so that the statistics may be available when they are required. Statistics can be collected through the use of surveys, i.e. the national census of which is held every 10 years in the UK by the government. The national census survey has been in place since 1801 and takes into account each individual within a household. It is able to provide an outline of the UK which enables us to compare geographical areas. However statistics are not always accurate for what they represent...
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...------------------------------------------------- Building Baby from the Genes Up Introduction Genomic science, with the experiments, is going towards such a future in which anticipatable reforms are likely to be achieved. These reforms include reducing the vulnerability to a number of diseases, and are likely to increase life span, better perceptive working and maybe even beautifying developments such as whitening of skin complexion, whiter and straighter teeth. The main challenge is to see that we do not also set free the geniuses of discernment and repression. Even though the risks have been acknowledged, but still the researchers believe that they can and will integrate the gene technology into the continuing human adventure. Thesis Statement “Though most of the people do not accept to modifying the genes of their babies but such human genetic technologies can be helpful in curing many terrible diseases.” Supportive Arguments Mr. Ronald M. Green, in his article “Building Baby from the Genes Up”, argues that the two British couples who were conceiving for a child were quite reasonable as there is a possibility of modifying the genes within the human body which can be result in having a modified kid. Such as, in the year 2007, two families were allowed to have genetic modification in the United States of America. The author argues that though most of the people do not like this concept but making modifications in the DNA sequences can be beneficial as this can reduce...
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...free through Government health care programmes or by the insurance companies through their universal health insurance. In contrast to other developed country India is likely to have many rare bleeding disorder patients (platelet defects and congenital bleeding disorders other than Hemophilia A, B & Von Willebrand Disease) these conditions are more difficult to diagnose and their management is not firmly established. Kar, A et al. (2007) discusses that inadequate treatment often results in disability, even in very young children, and use of whole blood and unsupervised use of painkillers to tide over bleeding episodes is widespread. Sreeparna Chattopadhyay(2006) discusses that thalassemia is an inherited blood disorder that has been receiving increasing attention in India. However, prevention of thalassemia in India continues to be difficult despite efforts of public health professionals and the government. Lack of access, low awareness, low-risk perception and poverty are all important proximate constraint are the greatest barriers. Judicial Intervention (Public Interest Litigations and Court Judgments) The right to health has been held to be a fundamental right in India by the Supreme Court under the sphere of the right to life protected under Article 21 of the constitution. The debate surrounding the implementation of the human right to health is new and full of possibility for the developing world. In fact, Indian has been able to create a legal mechanism whereby right to...
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