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Essay on therapies in hemophilia
Essay on therapies in hemophilia
Essay on therapies in hemophilia
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Hemophilia is a sex-linked hereditary bleeding disorder in which it takes a long time for the blood to clot and abnormal bleeding occurs. It is a hereditary blood coagulation disorder caused by a deficient activity of plasma protein factor thirteen and nine, which affects the clotting property of blood. A coagulation disorder is a disorder associated with platelets- blood cells essential for blood clotting. The platelets don't function properly in the body of hemophiliacs. There are two types of hemophilia: hemophilia A and hemophilia B. This disease affects mostly males.
Hemophilia A is the most common. Other names for it are classical hemophilia, and factor thirteen deficiency hemophilia. The bleeding disorder is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome. The X chromosome refers to sex-linked. The recessive inheritance refers to the fact that the trait, hemophilia, is expressed only when the defective form of the gene alone is present. Females have two X chromosomes for their sex chromosomes. They must carry the defective gene on both to have hemophilia. They must have it on one to carry it, and are then able to pass it on to their offspring. Males have X and Y chromosomes for their sex chromosomes. They only have one X chromosome, therefore only require a single dose of the defective gene to express the deficiency. Fifty percent of the male offspring of female carriers have the dise...
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. (www.ncbi.nlm.nih.gov)
• Hemolytic disease of the newborn. Hemolytic disease happens when a mother 's disease fighting system (immune system) attacks her baby 's red blood cells. Proteins (antibodies) in the mother’s blood destroy the baby 's red blood cells. Two conditions can cause hemolytic disease:
Hemophilia is a genetic bleeding disorder. People who have hemophilia have a deficiency or an absence of a coagulation protein. A blood clotting factor is deficient or absent. Bleeding is most often in joints, such as the knee, elbow, or ankle, but bleeding can occur anywhere in the body. People with hemophilia bleed longer, not faster.
Turner’s affects the second X chromosome in a chromosome pair. This X is either incomplete or missing completely, which causes a decrease in fetal development and also a decrease in the development after birth. Since Turner’s affects the second X chromosome, this means that Turner’s only affects females. However, females of a certain race, nationality or those who live in a certain region of the world have the same risk of having Turner’s. One in every 2000 to 2500 baby girls are born with Turner’s, according to the National Health Service in the United Kingdom. Normally if a baby is conceived with an X chromosome missing, the body will naturally abort the baby, which is a miscarriage. Turner’s is usually the cause of almost 10% of miscarriages in the first trimester.
Different people define success in many different ways. What is considered success by one person may be viewed as failure by another person. Randy Shilts, a homosexual newspaper reporter / author, attempts to make fundamental changes in America’s opinion on AIDS. In Randy Shilts’s essay, "Talking AIDS to Death," he speaks of his experiences as an "AIDS celebrity." At the core of Shilts’s essay is the statement, "Never before have I succeeded so well; never before have I failed so miserably"(221). Shilts can see his accomplishments from two points of view- as a success and as a failure. Despite instant fame, Shilts is not satisfied with the effects his writings has on the general public. Shilts’s "success" and reasons for failure can both be considered when one decides whether or not his efforts were performed in vain.
In the early 1980s, most people with Hemophilia were injected with “HIV”, because the factors used for treatment were isolated from injected human plasma. Since then, “virus sterilizing techniques” and the use of “artificial factors” have greatly reduced this risk. Hemophilia A can also be known as classic Hemophilia (because it is more common) and factor VIII deficiency. Hemophilia B is also known as Christmas disease, and factor IX deficiency.
Hepatitis is the inflammation or swelling of the liver. The inflammation can happen from different injuries or viral forms of a disease. People who experience hepatitis have the symptoms of malaise, nausea, vomiting, loss of appetite, fever and jaundice. There are six known forms of Hepatitis which are Hepatitis A, Hepatitis B, Hepatitis C, Hepatitis D, Hepatitis E and Hepatitis G. The presence of hepatitis in the body can be very risky and cause severe death if not taken care of. Hepatitis is a severe issue that affect many people around the world like third world countries and cross contamination can occur mainly in health care places due to the exposure of patients with the disease and accidents handling blood or instruments, Hepatitis A,B,C,D,E and G are distinct diseases that differ in transmission and vaccines to prevent them or cure them.
Thalassemia is an inherited blood disorder characterized by low amounts of hemoglobin and a low count of erythrocytes in the body. Thalassemia is caused by mutations in the deoxyribonucleic acid of cells, which makes hemoglobin. The mutations are passed from parent to child. The mutations vary depending on the type of Thalassemia inherited. The variation in the mutation occurs from the number of gene mutations, which are inherited, as well as mutation within the hemoglobin molecule. Clinical manifestations are diverse ranging from asymptomatic, to those who are carriers of the thalassemia, which may have mild symptoms, there also people who posses the trait, who may have severe symptoms which lead to death.
Hemophillia is a rare bleeding disorder in which the blood does not clot normally. Hemophillia is usually inherited and people born with it have little or no clotting factor (a protein needed for normal blood clotting). These proteins work together with platelets to help the blood clot. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels. Hemophillia usually occurs in males with about 1 in every 5 000 males being born with the disease each year. A hemophiliac does not bleed more intensely than a person without it but can bleed for a much longer time. In some severe cases, continuous bleeding occurs after minor trauma or can even happen spontaneously.They may also bleed inside their body(internally), especially in the knees, ankles, and elbows. The bleeding can damage organs and tissues and may be life threatening. There are two main types of hemophilia: A and B. People born with type A are missing or have low levels of clotting factor VIII (1 in 5 000 males). People born with type B are missing or have low levels of clotting factor IX (1 in 20 000 males). About 8 out of 10 people who have hemophillia have type A. The greatest concern for both types is deep internal bleeding and bleeding into joints. Hemophilia is a life long disease, but with proper treatment and self-care, most people maintain an active productive lifestyle.
Tsar Nicholas II and his Tsarina, Empress Alexandra, had only one son, Tsarevich Alexei. However, Alexei had inherited from his great-grandmother Queen Victoria the life-threatening genetic disease hemophilia B, a sex-linked genetic disease on the X chromosome that caused a condition of deficiency in blood-clotting and excessive bleeding, symptoms that usually remain hidden unless contracted by a male (Fuhrmann 37; King 28). To Nicholas II, it was imperative that he have a son to succeed him to secure the throne. Alexei was Nicholas’s sole male heir, giving Nicholas the incentive to protect his son at all costs. Without a scientific cure for the genetic disease, Alexandra turned to religion, namely Grigori Rasputin, a poor uneducated Siberian peasant to protect her son.
Fabry disease is a rare hereditary disorder that’s from buildup glycolipids called GL-3 in the body’s cells, tissue, or other organs. The damage to the cells, tissues, or organs can cause a wide range of mild to severe symptoms that can be life threatening. Signs and symptoms’ may be noticed in childhood or adolescence. Many patients are diagnosed in adulthood. The average aged to be diagnosed with Fabry disease is age 29. One or both parents can carry an abnormal gene that’s passed to their children. The abnormal gene is on the X-chromosomes. Females have 2 X-chromosomes one by each parents. Males have one chromosomes inherited from their mother and one Y-chromosome by the father. Males and Female children of an affected female have 50% chance of having the gene. If the father carries one the gene all girl children will inherit the gene and males won’t. There are no known predetermining factors of Fabry disease.
The type of mutation that occurs in Down syndrome is aneuploidy that is the irregular number of chromosomes in a cell. The most common of the three is the trisomy 21 that occurs in about 90% of people with the disorder. In this factor the human is given three copies of the chromosome 21 instead of the common two copies. This occurs due to the complications of the cell division in the process of the egg or sperm. The next case is mosaic which happen when there are inequality of cells with three copies of chromosome 21 and others with the original two copies. Mosaic appears when there is an unexpected cell division after fertilization. The last and the rarest form is translocation and that happens while the chromosome 21 in cell division is broken off and attached to another chromosome. Since the disorder is unexpected there are numerous amounts of risk factors that are possible based on the severity of the person.
Hepatitis In modern society when a person gets sick with the flu or a cold they will usually go about their normal routine with the exception of a sneeze or a cough throughout the day. Sometimes things can be more than what they appear to be. The symptoms start out like the flu with coughing, fever, aches, and vomiting. However, the disease gradually worsens with symptoms of extreme weakness and excruciating abdominal pain. By then it is usually too late when the person finds out that their liver is failing and that there disease is caused by one of the most contagious, dangerous and deadliest of viruses. These viruses that were initially concealed by flu like symptoms are now known collectively as the disease of Hepatitis. The disease of Hepatitis is actually by six different types of viral infections, namely, Hepatitis A, B, C, D, E, and G. Hepatitis descries the destructive affect of the viral invasion of the body and liver by six and separate viruses. Each type of viral infection varies from one to another in degree of severity. The names of the viruses are in alphabetical order corresponding to their discovery. There is also a non-viral Hepatitis which is caused by substance. One rumor that has spread about hepatitis is that a person can only contract Hepatitis if associated with HIV or AIDS. This is not true! Any one can become infected with Hepatitis. Unfortunately this is about all most people know of Hepatitis. They need to know the full horror of which the virus is capable. The first of the Hepatitis viral infection to be discovered is Hepatitis A. Hep. A is the mild mannered virus compared to the other viruses. It has the symptoms of influenza, fever, vomiting, loss of appetite, and weakening of body, but it does have some differences such as jaundice (a yellowing pigmentation of the skin and whites of the eyes) and urine appears to be a darker color. Jaundice is caused by an abundance of bilirubon which has not been removed from the blood system due to the infected liver. Hep. A does not have any special medications or antibiotics that can be used to treat or prevent this unpleasant virus. Some ways of avoiding this viral infection include washing the hands very carefully and not eating food or drink of others. People living in the same house or having close contact should clean the area very thoroughly.
The second one is beta thalassemia. This occurs when similar gene defects affect production of the beta globin protein. It happens mostly in people of Mediterranean origin, Chinese, other Asians, and African Americans. You need both alpha- and beta-globin to make hemoglobin. If you have one damaged gene, you may have mild anemia and probably won't need treatment. This is called beta thalassemia minor or beta thalassemia trait. It happens when you get a normal gene from one parent and a thalassemia gene from the other. When both genes are damaged, it means you got a thalassemia gene from each parent. You may have moderate or severe anemia. If you have moderate anemia, you may n...