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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...
• 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:
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency 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.
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.
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.
Haemophilia is used to describe a collection of hereditary genetic diseases that affect a mammal’s body’s capability to control thrombogenesis. Thrombogenesis is the way in which blood clots which is an important role in haemostasis. Two common forms of haemophilia are A and B. (1) Someone with A (otherwise known as classic haemophilia), clotting factor VIII is does not exist enough or is entirely absent. A person with haemophilia B (otherwise known as Christmas disease), clotting factor does not exist enough or is also entirely absent. Those with the disorder do not bleed a lot they just simply bleed for a longer period of time. All people with haemophilia A or B are born with the disorder as it is a hereditary disorder and passed down through generations very few cases of haemophilia are not genetic and are therefore rendered a spontaneous gene mutation which is then passed down.
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.
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.
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.
Hemophilia is a serious genetic condition caused by a coagulation factor that causes a mutation in the f8 and f8 gene. Hemophilia can be treated but not cured. Further studies are currently being done today. Living with hemophilia can be very difficult .physical activity is not recommended for individuals living with this condition. Also surgery is highly dangerous because of the excessive bleeding. In society we have set backs but we have to learn to deal with them.
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)
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...