...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 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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...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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...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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...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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...and Ron would like to have a baby. However, they are worried because Jackie has a sister who has cystic fibrosis. Although, Jackie does not have it, she knows that she could carry the recessive allele for it (not having cystic is dominant). Her husband does not have any family members who have cystic fibrosis, but he could carry it too. If they both have recessive alleles for cystic fibrosis, what are the chances that their baby will have it? 3. Rachel just found out that she is pregnant. She is excited, but she is worried. Her brother has hemophilia. Hemophilia is a sex-linked, recessive trait. If she carries the gene for hemophilia and she has a girl, what are the chances that the baby will have hemophilia? If she has a boy, what are the chances that the baby will have hemophilia? How would this change if her husband has hemophilia, too? a. Girl baby: b. Boy baby: c. Girl baby (if Dad has hemophilia): d. Boy baby (if Dad has...
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...is heterozygous: Jackie and Ron would like to have a baby. However, they are worried because Jackie has a sister who has cystic fibrosis. Although, Jackie does not have it, she knows that she could carry the recessive allele for it (not having cystic is dominant). Her husband does not have any family members who have cystic fibrosis, but he could carry it too. If they both have recessive alleles for cystic fibrosis, what are the chances that their baby will have it? Rachel just found out that she is pregnant. She is excited, but she is worried. Her brother has hemophilia. Hemophilia is a sex-linked, recessive trait. If she carries the gene for hemophilia and she has a girl, what are the chances that the baby will have hemophilia? If she has a boy, what are the chances that the baby will have hemophilia? How would this change if her husband has hemophilia, too? Girl baby: Boy baby: Girl baby (if Dad has hemophilia): Boy baby (if Dad has...
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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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...1. Terry, Greg, Jenny, and Bill all demonstrate principle 1. 2. Greg, Carl, and Terry represent principle 2. 3. Jessica, Terry, Florence, and Greg represent principle 3. 4. If a male has an X on their chromosome they automatically have the disease. A male cannot carry hemophila due to them only having a single X chromosome and hemophilia is a recessive x-linked trait. 5. The probability of Marcy and Tom having a child with hemophilia is 12.5%. This is because Marcy has a 50% chance of being a carrier. Marcy’s children in turn have a 50% chance of receiving a copy of the X chromosome. Thus, there is a 25% chance that any of the children would receive a copy of the recessive X allele from Marcy. Tom does not have hemophilia, so we know that the gene on his X chromosome is normal. Therefore, only Marcy and Tom’s sons could have hemophilia. The total probability of Marcy and Tom having a child with hemophilia is 12.5% which brakes down mathematically (0.5)(0.5)(0.5) = .125. 6. 7. 8. The drugs for chemotherapy target the rapidly dividing cells of the body, which include not only the cancer cells but the hair cells. Those drugs are used specifically to seize the ongoing replication of fast growing cells. This means that these drugs affect the fast replication of hair cells and new growth cannot occur because of the intensity these drugs apply to the cells. Fortunately hair loss is just when the chemotherapy is repeated throughout the body. Shortly after chemo is no longer...
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