...Genetic Engineering and Hemophilia Hemophilia is a blood disorder found in one out of every 7,000 people. Having famously afflicted Tsarevich Alexei Nikolaevich, heir the the Russian throne, hemophilia causes excessive bleeding. Genetic engineering the the removal, addition, or redistribution of genetic material by scientists or genetic engineers in order to create a more ideal gene in a given circumstance. Hemophilia is a rare blood disorder that impress the body’s ability to control blood clotting. This means that when a blood vessel is broken, the patient is unequipped to form blood clots around the wound. The patient will experience excessive and intense bleeding. It will take far longer for the patient to heal from a given wound. Though...
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...Hemophilia There are hundreds of different genetic disorders. Hemophilia is a sex- Linked disorder that affects the way a person’s blood clots. A sex-linked disorder has to do with the XX chromosomes of the mother and the XY chromosomes of the father. These genes have more functions than just identifying the sex of the person. Sometimes there are genetic mutations to these genes or certain traits that are passed down from parent to child. When a normal healthy person gets injured there blood clots or thickens so that they will stop bleeding and make a scab to protect the wound and begin the healing proses. Platelets are tiny elements made in the marrow of your bones. They flow though the blood stream waiting for bleeding to occur. After the body detects bleeding, it floods the damaged area with platelets. These platelets go through a chemical reaction that makes the outside of the sticky. They begin to stick to the damaged area and each other. This forms what is known as a white clot. The second thing that happens in the blood clotting procedure is many blood proteins in the thrombin system get activated when the body detects bleeding. When these proteins are activated they go through many chemical reactions to produce fibrin. Fibrin is a sticky string like substance that covers the wound in a Genetic Disorder 3 Web-like pattern. This is how a red clot forms. The web like design traps many red blood cells in it and that’s how it gets its red color. When someone...
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...Hemophilia & Transposons Hemophilia is an inherited genetic disorder that impairs the body’s ability to coagulate blood or control blood clotting. Hemophiliacs have problems in the blood coagulation mechanism and blood platelets and/or blood vessel defects that cause the individual to have problems forming blood clots to stop bleeding. The individuals tend to bleed for longer periods then normal individuals. Hemophiliacs do not bleed more intensely than normal individuals but due to the length of time for a clot to form their volume of blood loss is more severe.This can be deadly or debilitating in injuries to the brain. Minor injuries can lead to extreme blood loss over hours or days that require hospital attention. There are two main types of Hemophilia, Hemophilia A and Hemophilia B. Both are recessive X-linked chromosome disorder that are more prevalent in males than females. Hemophilia A is the most common type affecting 1 in 5,000 males. It is due to a deficiency in clotting factor VIII, an essential blood clotting protein. Hemophilia B is less common and affects 1 in 30,000 males. It is due to a deficiency in clotting factor IX which is a serine protease of the coagulation system. Females are usually asymptomatic carriers of the disorder. The defective gene can either be a new mutation in the X-chromosome or can inherited either from her father or mother. Hemophilia is a Class I transposons. This is a retrotransposons that transcribes DNA into...
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...There are two types of Hemophilia, A and B. Both are caused by deficiencies in the amount of clotting factor in the blood (VIII or IX). When the blood does not have enough of one of these or is missing one clotting factor, the bleeding may end very slowly or may not stop at all. The two types of Hemophilia are linked together by their similar clinical pictures and their similar inheritance patterns. The most dangerous part about having Hemophilia is internal bleeding. If internal bleeding is left untreated it can lead to deformity, disability or even death. In a Hemophiliac the bleeding continues until either it clots long enough for it to heal or the person will bleed to death. When a baby starts to crawl the parents may notice bruises on stomach, chest, buttock, and back. The baby may also be difficult, not wanting to walk or crawl Other symptoms include long nosebleeds, excessive bleeding from any kind of cut bruise or surgery. The disease occurs at birth and is usually tested for. 17000 people are affected by the disease in the United States and 400,000 are affected across the globe The disease is primarily in males Hemophilia is a genetic disease and is passed on by the X chromosome (the chromosome that carries the clotting factor). Hemophilia effects the F8 gene which is known as the blood clotting gene The most common mutation in people with severe hemophilia A is a rearrangement of genetic material called an inversion. This inversion involves a large segment...
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...Hemophilia is a rare disease that affects about 400,000 people worldwide, and occurs mostly in men. In this report I will be talking about symptoms, how you develop it, treatment, testing, living with the disease and more. Hemophilia is a rare and painful blood disorder where your blood is not able to clot normally. There are two main types of hemophilia. Hemophilia A is a mutation in the gene VIII and type B is a mutation in the gene IX. Type A is four times more common than type B. if a person cuts or suffers internal injuries like a bruise they will bleed longer than a regular person. Also they will have a harder time recovering from the injury. When a person hits any part of their body hard enough the blood will pool inside their body and is very painful. Also when they get cut the blood does not stop without medical help. This disorder is genetic and you can only inherit it. It does not spread like a virus. It is very rare that a genetic mutation will occur and you get the disorder. Some symptoms are you have excessive bleeding from minor cuts, large or deep bruising, swelling in joints, nose bleeds randomly, extreme headache, vomiting,...
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...Hemophilia is one of the diseases that are caused by genetics. It is an inherited disease which contains bleeding disorders. The disease is received from mother to son. This is a disease where blood does not clot normally. People who suffer from hemophilia tend to have abnormal and uncontrollable bleeding. There are two types of hemophilia: hemophilia A and hemophilia B. Hemophilia A is resulted from the absence of coagulation factor VII whereas hemophilia B is resulted due to a deficiency of coagulation factor IX. Hemophilia A is the most common bleeding disorder compared to hemophilia B. Hemophilia is an X-linked recessive disorder where males are affected most of the time. Studies have shown that the age distribution of the disease follows consistently same path. Because children are affected when they are born, distribution of the disease is shown in younger generations. There are some symptoms and signs associated with hemophilia. One of the most common types of symptoms during the disease is excessive bleeding. For example, bleeding can occur in a joint or a muscle of the body. Abnormal bleeding often occurs after a minor injury. One can doubt an existence of hemophilia if bleeding occurs frequently. Diagnostic tests can be performed to determine the severity of the disease. Diagnostics tests such as blood tests and genetic tests help understand factors responsible for the disorder. For example, blood tests are able to help determine current levels...
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...Hemophilia Russell Stoffel March 25, 2013 C. Engel Biol 101-SA01D Abstract Hemophilia is a sex linked inherited bleeding disorder directly linked to the X chromosome, which is responsible for the increased epidemiology in males. Women become carriers and pass it down to male offspring. The person has a decrease or lack of clotting factors in their blood, specifically factors XIII and IX which prevents their blood from clotting properly, causing excessive bleeding. Keywords: X chromosome, Factor VIII, and Factor IX Hemophilia Hemophilia is a condition that has been referenced to throughout history. Although in the second century A.D. they did not know that the excessive and unexplained bleeding after circumcision of male babies was in fact just that, Hemophilia. In the twelfth century A.D. the disease was linked to one particular village, then to one family. This connection was discussed in writings by Dr. John Conrad Otto. Through the years many theories about the cause of Hemophilia have been developed, researched, and investigated. The field of scientific research has come far since then leading to in-depth analysis of exactly what the genetic inherited disease Hemophilia is and a better understanding of how to treat it. Hemophilia is an inherited bleeding disorder in which the affected person’s blood does not clot properly. More specifically, there is something wrong with the gene that codes for clotting proteins...
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...Hemophilia SUMMARY Figure 1: Coagulation factor VIII Figure 1: Coagulation factor VIII Over 400,000 people around the world suffer from hemophilia and about 300,000 individuals have little to no treatment on their disorder. Vaccines and drugs are costly to produces and to administer to the affected individuals so more cost-effective therapies are required. There have been tests on gene transfer but these tests show no results to form a stable version of factor VIII or IX. More testing and clinical trials are being performed to produce a more stable version of the coagulation factors. Bioengineering coagulation factors show positive signs for victims with hemophilia which will further preclinical studies. BACKGROUND/INTRODUCTION Figure 2: Dr. John Conrad Otto Figure 2: Dr. John Conrad Otto The purpose of researching gene therapy and alternative cures for hemophilia is to cut down cost of treatment and prolong the effects of the therapy. Hemophilia dates back to ancient times. The Talmud and Arab physicians had stories about males dying from minor cuts. Hemophilia was finally recognized as a hereditary disorder in 1803 by Dr. John Conrad Otto. He saw a trend in families that female were carriers of the disorder and that mostly males were affected. Hemophilia is a genetic disorder that makes it much harder and longer for your blood to clot when you are injured. In severe cases continuous bleeding could occur after minor cuts. There are two types of hemophilia,...
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...a daughter who has hemophilia? Explain your answer using terms such as sex-linked inheritance, sex-linked genes, dominant, recessive, and X and Y chromosomes. Sex-linked inheritance is when a gene is located on a sex chromosome, usually a mutated gene that can cause a disorder. The sex chromosomes are X and Y. The combination of two sex chromosomes determines a person’s sex. XX is female and XY is male. Hemophilia is a rare, sex-linked inherited blood clotting disorder that causes blood to clot abnormally resulting in slower clotting. Hemophilia is a recessive disorder that is passed along the X chromosome (National, 2013). A recessive gene will not manifest itself unless paired with a like recessive gene or in an absence of a dominate gene to suppress it. A carrier is a person who has the gene for a disorder, has the ability to pass on the disorder, but does not develop the disorder because there is not a matching recessive gene to activate it and there is a dominant gene to block it. A woman who is a carrier for hemophilia will be represented as XXh. If a male is XhY the hemophilia gene on the lone X chromosome is enough for the condition to manifest itself (National, 2013). A woman who is a carrier of hemophilia can give birth to a daughter who has hemophilia only if the male has hemophilia and transmits the recessive gene on his X chromosome. If a woman who is a carrier mates with a man who has the disorder they could have a daughter with hemophilia. The offspring of a...
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...C. The Case of Hemophilia and Right to Health Hemophilia is a genetic condition in which the body fails to produce a protein known as Factor VIII – a vital component of the blood-clotting mechanism. As a result, hemophiliacs are more susceptible to both internal and external bleeding. There are an estimated 100,000 hemophiliacs in India. Sufferers can only survive and lead relatively normal lives if the disease is treated with an expensive drug called Anti-Hemophilic Factor (AHF). Review of Literature – Anita Kara et al, (2014) India lacks a national policy on the prevention and control of genetic disorders. Although the haemoglobinopathies have received some attention, there are scarce data on the epidemiology of other genetic disorders in India. Using the population...
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...Hemophilia is an uncommon draining issue in which the blood doesn't clump typically. On the off chance that you have hemophilia, you may seep for a more drawn out time than others after a damage. You likewise may seep inside your body (inside), particularly in your knees, lower legs, and elbows. This draining can harm your organs and tissues and may be life threatening. Hemophilia typically is inherited. "Inherited" implies that the issue is gone from parents to children through genes. Individuals conceived with hemophilia have practically no thickening component. Coagulating component is a protein required for ordinary blood thickening. There are a few sorts of coagulating components. These proteins work with platelets to offer the blood some...
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...According to “Rosdahl, C.B., & Kowalski, M.T. Textbook of Basic Nursing, 10th ed., Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins, 2012, Chapter 72: Care of the Infant, Toddler, or Preschooler, p. 1155-1156”, Hemophilia is a rare gender linked hereditary bleeding disorder. It is more common in males than females. Males become symptomatic from this disorder because females are the carriers of the gene but very rarely symptomatic. It is caused by an insufficient clotting factor of VIII and IX. A presence of internal and external hemorrhage can occur with even a minor injury. The bleeding can damage organs and body tissues and it can be life threatening to those who are affected. DESCRIPTION OF THE CASE Hemophilia can be a mild, moderate or severe disorder. A disorder in which blood doesn’t clot normally because it bleeds excessively (internal & external) it occurs when there is an injury and damage. Symptoms are deep bruises, nose bleeding, repetitive vomiting, painful & prolonged headache, tightness of the joint, the joint become swollen , hot to touch and painful, unexplained bleeding or prolonged bleeding from a minor cut, swelling, hematuria ( blood in the urine) and blood in the stool....
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...Josiah Hicks Genetic (Or Not) Disorders There are many diseases and disorders in the world, they all have different causes and effects. Some of the causes may be genetic, some might be the result of the surrounding environments, and some even remain unexplained. Today, I’m going to cover some of them, I’m going to explain the causes of the disorders, the resulting effects of the disorder, and if there is a cure. Sickle cell anemia or SCD is a hereditary disorder (meaning that it is acquired through the parents) and is categorized by the most prominent effect on the body’s production and storage of the a molecule in...
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...Genetically Transmitted Disorders Introduction Genetics originated in the mid-19th century when Gregor Mendel discovered over a ten year period of experimenting with pea plants that certain traits are inherited. His discoveries provided the foundation for the science of genetics. Mendel's findings continue to spur the work and hopes of scientists to uncover the mystery behind how our genes work and what they can reveal to us about the possibility of having certain diseases and conditions. The scientific field of genetics can help families affected by genetic disorders to have a better understanding about heredity, what causes various genetic disorders to occur, and what possible prevention strategies can be used to decrease the incidence of genetic disorders (Pitman, 2002). What is Heredity? Why do children look like their parents? Why do brothers and sisters resemble each other? This is because we “inherent” traits from our parents. The passing of traits from parents to child is the basis of heredity. Traits are physical characteristics. Eye color, nose shape, and many other physical features are some of the traits that are inherited from parents (Kristine & Stewart, 2007). What is genetics? Genetics is the science that studies the mechanics of heredity, or the means by which traits are passed from parents to offspring. Through genetics a number of specific disorders have been identified as being genetically caused (ibid, 2007). Dominant Inheritance ...
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...Genetic diversity is always changing both across space and through time. Typically, the amount and type of genetic diversity within a species vary across its natural range. Additionally, its genetic diversity changes over time. At least in the long-term, and sometimes even over shorter time frames such as a few generations of the species. These natural changes in the genetic diversity of a species create a dynamic landscape upon which any influences that we exert are superimposed. To better understand our impacts, and to decide if management actions are warranted, it is useful to understand the natural dynamics of genetic diversity. Genetic diversity is affected by several ongoing natural processes. These processes are: mutation, migration, genetic drift, and selection. Mutation is the origin of all new genetic diversity, occurring when there are occasional errors in the replication of DNA or other elements of the production and packaging of genetic information within the cells. Although implies something negative, mutations can have positive, neutral, or deleterious impacts Mutations occur rather slowly but continuously. Mutations at one level, for example, in the nucleotides that are the basis of DNA, May not all is expressed at other levels — such as protein differences or observable changes in the appearance of a plant. The rate of mutation is useful in determining evolutionary relationships. Mutations can be beneficial, neutral, or harmful for the organism, but mutations...
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