Clinical Genetic Disorder Beta Thalassemia - 1562 Words

Clinical Genetic Disorder: Beta Thalassemia I. Creative Writing John and his wife Mary decided that after 3 years of marriage that it was time for them to bring a child into their life. John and Mary lived on the coast of Greece, where the weather was always sunny and the water not but a stone toss away. John and Mary decided it was the right time, the, 9 months later they conceived a son, they named him Henry. During the first two years of Henry’s life John and Mary noticed abnormalities in Henry’s development. Henry did not gain weight and grow as he was expected. Henry also exhibited signs of weakness and fatigue. Henry had always been pale, and this alone was never enough alarm suspicion; but Henry’s paleness started to shift to a more yellowish tint, along with these other signs raised enough suspicion to take Henry to the hospital. The doctor took blood from Henry to be tested. After the test result came back the doctor concluded that Henry had an enlarged spleen and liver, as well s uffered from a hereditary disease called beta-thalassemia. John and Mary in complete dismay questioned the doctor as to how their son suffered from a hereditary disease neither of them had suffered from. The Doctor informed the grieving parents that both of them must be carriers of the mutated HBB gene. During the conception of Henry, John and Mary must have passed on the mutated recessive on: thus with the presents of two mutated recessive HBB genes caused Henry to developShow MoreRelatedThalassemia1449 Words   |  6 PagesBeta 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 thalassemiaRead MoreBlood Is Essential For Efficient And Effective Bodily Function1308 Words   |  6 Pagesbody disorders of the blood become systemic. As defined by the Centers for Disease Control and Prevention, Hemoglobinopathies are blood disorders and diseases that affect red blood cells. The presence of pathogens/disease with blood has an overall detrimental effects on health. The only way to become a patient of infected with a hemoglobinopathy is by being predisposed to the disease though genetics. This is ev ident when taking into considering the two hemoglobinopathies, Sickle Cell and Beta-ThalassemiaRead MoreGene Therapy : An Experimental Technique2685 Words   |  11 Pagesprevent or treat diseases. The process was initially designed to introduce genetic material into cells to compensate for abnormal genes or to make a beneficial protein. These abnormal genes, often caused by single nucleotide polymorphisms, can affect how humans develop diseases and how they will respond to pathogens, drugs, and other agents. Although gene therapy is a promising treatment option for a number of diseases and disorders, the technique remains risky and is still under study; it is currentlyRead MoreGenetic Disorders: Beta Thalassemia1398 Words   |  6 PagesOrofacial characteristics of ÃŽ ² –thalassemia major patients among the UAE population Introduction Beta thalassemia is a genetic disorder in which the gene for the production of beta globin chain is defective. The name thalassemia is derived from a combination of two Greek words: thalassa meaning the sea, i.e. the Mediterranean, and anaemia (â€Å"weak blood†). Therefore it is also known as Mediterranean anemia. Another name for beta-thalassemia is Cooley’s anemia, named after Prof. Thomas CooleyRead MoreOutline of Treatment with Beta Thalassemia2085 Words   |  8 Pagesmother and brother B. Information about beta thalassemia 1. Common in people of African, Mediterranean, Asian and Middle Eastern descent 2.Thalassemia is the most common genetic disorder worldwide with beta thalassemia has the most common of the group due to the more than 250 mutations in hemoglobin beta have been linked to causing Beta thalassemia (according to the DNA Learning Center) II.What is Beta Thalassemia? A. Beta thalassemia is a genetic disorder that disturbs the normal production ofRead MoreGene Therapy And Its Effects1619 Words   |  7 PagesThe world of genetics has mainstreamed into medical practice, transforming the way patients are treated. Recently, gene therapy has been propelled into the spotlight with the most recent successful clinical trial in which scientists reprogrammed ordinary cardiac cells in pigs to mirror the function of the sinoatrial node, thereby inducing a steady heartbeat. In the last few decades since its inception, gene therapy has rapidly advanced; there have been remarkable strides in its methods and an increaseRead MoreA Short Note On Thalassemia And Its Effects On The Body1954 Words   |  8 PagesIntroduction One of the major causes of microcytic anemia is Thalassemia. It is a very common hereditary blood disorder where the proteins called hemoglobin, which are located in red blood cells and have the function of carrying oxygen, are abnormally formed. It is mainly because of an imbalance in the production of alpha or beta globin. To be normal, one must have an equal production of both alpha and beta globin in their body. However, when the body does not produce this in equal proportions,Read MoreAsthma2764 Words   |  12 Pagescorpulence. Corpulence is a body mass list of thirty or more prominent (Overview). An excessive amount of fast food, insufficient starches or fiber, and next to zero activity are bringing on more Americans and Europeans to create sort two diabetes (Genetics). Nowadays heftiness is an in number danger component for more youthful youngsters to create sort two diabetes (What is Diabetes). At the point when determined to have diabetes it is essential to counsel a nutri tionist and control your eating routine Read MoreSymptoms And Treatment Of A Blood Disorder By Inherited Deficiency Of Haemoglobin, A Major Constituent Of Erythrocytes2120 Words   |  9 Pagesis an anaemic blood disorder caused by inherited deficiency of alpha- or beta-globin synthesis in the production of haemoglobin, a major constituent of erythrocytes (Mosby 2012 p.1760). Although the disorder is now known to affect many individuals and has a vast global distribution, the word ‘thalassaemia’ originally derived from Greek roots for ‘the sea’ and ‘blood’, under the mistaken belief that it was confined to the Mediterranean region (Weatherall 2001, p.1). The disorder was discovered in 1925Read MoreThe Probability of Inheriting a Disease Is Not Random1816 Words   |  7 Pagesinheriting a disease such as race, gender, genetics, etc. A person of Caucasian decent is more likely to develop cystic fibrosis, an Asian person has a higher chance of i nheriting Kawasaki disease and there is a very high rate of Sickle Cell Anemia among people of African lineage. Sickle Cell disease is inherited and it affects the anatomy of the red blood cells, resulting in a sickle shape which then affects the functions of red blood cells causing a blood disorder. Sickle Cell is a recessive disease and