...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 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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...INTRODUCTION 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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...Hemophilia A, also known as classic or deficiency hemophilia, is a genetic disorder in which a VIII factor, a clotting protein, is missing or defective. Meaning a person’s blood is not able of clotting normally. This incapacity of blood clotting can occur internally and externally. When bleeding internally, the part in which your are bleeding swells up and the skin turns red or purple, depending on how severe it is. It normally occurs in the joints such as in the knees, elbows, ankles, which can be very painful and lead to crippling and arthritis. Bleeding in areas such as the throat, brain and abdomen can be life-threatening. On the other hand, external bleeding occurs when the skin is cut or opened . It is often triggered by surgery,...
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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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...Hemophilia is a genetic blood disease, which is characterized by the inability of blood to clot, or coagulate even from minor injuries. This disease is caused by an insufficiency of certain blood proteins, called factors, that participate in blood clotting and often by sudden gene mutation. Therefore, with the absence of factors, the blood clotting process is prolonged. There are different types of hemophilia, hemophilia A and hemophilia B for example. Hemophilia A , the most common form is caused by the lack of factor VIII. In the second most common form of hemophilia, hemophilia B (also known as Christmas disease), factor IX is absent. The condition appears when the person is born. Also, the disease is hereditary, passed on from parent to child. Because of it's genetic makeup, hemophilia is carried by females however those affected are almost always males. In one-third of all cases hemophilia thought to be caused by spontaneous gene mutation with no family history. This is how females are able to be affected by hemophilia. Inheritance is controlled by a recessive sex-linked factor carried by the mother on the X chromosome. There is a fifty percent chance that the sons of a female carrier will have hemophilia. There also is a fifty percent chance that the daughters of a female carrier will be carriers of hemophilia. In addition, all daughters of men with hemophilia are carriers, but his sons are unaffected. Men cannot transmit hemophilia, and female carriers are free of the disease...
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...What is hemophilia? Hemophilia is a rare bleeding disorder where your blood doesn’t clot normally, which is also hereditary. Hemophilia occurs because certain clotting factors are missing from the blood or they simply do not work. This disorder can cause bleeding for a long time from a simple cut or wound. Spontaneous internal bleeding also can occur in the joints and in the muscles. Hemophilia mostly affects males more than females, this is not to say that it is not seen or uncommon in of females. There are two types of inherited hemophilia which are Type A and Type B. Type A Hemophilia is the most common type of this blood disorder. It is caused by a deficiency of factor VIII, one of the proteins that helps blood to clot. Depending on the level of factor VIII a patient might bruise easily, have inadequate clotting of an...
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...Surabhi Madadi AP Biology Period 4 Genetic Disorder: Hemophilia A Hemophilia A, or “The Royal Disease,” literally means “love of bleeding.” It is the most common type of hemophilia. People with hemophilia A bleed extensively after injuries due to a missing or defective clotting protein, factor VIII. Two-thirds of hemophiliacs inherit hemophilia from their parents, while the remaining one-third obtain it from a spontaneous mutation during embryonic development. Hemophilia has been recognized since ancient times such as the Talmud, Jewish Rabbinical writings. In 1803, Dr. John Conrad Otto recognized that the disease was hereditary and affects mainly males. Hemophilia is called “The Royal Disease” because Queen Victoria was a carrier. Her son,...
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...Dr.Sanjay Mishra-Chief Dietitian Hemophilia: Causes, Symptoms and Risk Factors Hemophilia is a genetic disorder where protein factors that help blood clot are missing, or not fully functional. Those with hemophilia experience prolonged bleeding following injury, surgery or even minor trauma. Severe forms of the disease may cause spontaneous bleeding in the absence of any trauma to the body. Bleeding internally into the joints, brain or other organs can lead to serious complications when left untreated. There are three main types of hemophilia depending on which clotting factor is affected: • Hemophilia A: deficiency in clotting factor VIII • Hemophilia B: deficiency in clotting factor IX • Hemophilia C: deficiency in clotting factor XI. Hemophilia...
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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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...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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...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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...on a breathing tube. The doctors finally found out about his rare condition and was able to stop the bleeding. Later on all blood tests said that Nathaniel was dead. There is no explanation to why Nathaniel survived. Nathaniel is now six years old and is healthy and happy. He has the most severe form of hemophilia. He is extremely intelligent even though he had lost so much blood and oxygen. He runs and jumps...
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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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