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Hemophilia research paper intro
Hemophilia research paper intro
Hemophilia research paper intro
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Hemophilia is a rare genetic blood clotting disorder that primarily affects males. People living with hemophilia do not have enough of, or are missing, one of the blood clotting proteins naturally found in blood. Two of the most common forms of hemophilia are A and B. In persons with hemophilia A (also called classic hemophilia), clotting factor VIII is not present in sufficient amounts or is absent. In persons with hemophilia B (also called Christmas disease), clotting factor IX is not present in sufficient amounts or is absent. People with hemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time. Virtually all people who have hemophilia A or B are born with it. The majority of people with hemophilia have a family history (it is a hereditary disorder). In as many as 30% of cases, there is no family history of hemophilia. In these cases, the mother may not be aware that she carries the gene for hemophilia, or a gene mutation may have occurred spontaneously. A long history Hemophilia was identified as early as biblical times. Doctors in medieval times were familiar with it as well. In 1803, a Philadelphia doctor published the first description of hemophilia in the United States. But it was not until 30 years later that hemophilia became widely recognized. Hemophilia later developed a reputation as the "royal disease" because it passed from Queen Victoria of England to her descendants throughout the royal houses of Europe. Who Gets Hemophilia? Hemophilia occurs when the gene to produce clotting factor does not work correctly. Without the proper amount of clotting factor, bleeding occurs easily. Hemophilia is an inherited disorder in about two thirds of the cases. About one third of the cases of hemophilia occur due to spontaneous changes in the gene or mutations. The presence of a mutated gene may not be noted until a woman with no family history of hemophilia has a son with the disorder. The gene for hemophilia is carried on the X chromosome. The gene for hemophilia is also recessive. This is why hemophilia is referred to as an X-linked recessive disorder. If there is not a normal gene present to offset the defective, recessive gene, the disorder will be present. Whether or not a child will have hemophilia or be a carrier for the disorder depends on the status of the mother and of the father. The figure below shows how this type of disorder is inherited.
Genetic Family History Assessment All nurses, no matter where they practice, need to have proper training in genomics and genetics to provide the best information to clients regarding recognition, prevention, and/or treatment of diseases (Thompson & Brooks, 2011). Genetic family history can help clients discover the unique patterns of health and illness within their family. In this paper, I will complete a Genetic/Genomic Nursing Assessment using the information found in Kaakinen, Coehlo, Steele, Tabacco, & Hanson’s text (2015) in Box 7-7 (p. 198). I will identify three generations of a family, analyze the genetic health risks, and consider nursing strategies for this family. The woman featured in my genetic assessment will be referred to as LG.
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.
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.
By using identified gene mutations that are known to cause diseases, asymptomatic individuals are able to discover if they are at risk for specific genetic conditions; this is known as genetic testing. Unfortunately, genetic testing can vary in its predictive ability. For example, Huntington disease, Duchenne Muscular Dystrophy, Fragile X syndrome and multiple endocrine neoplasia type 2 are conditions that can be determined by genetic testing (Samen, 1996). In contrast, for multifaceted diseases like Alzheimer’s, breast and ovarian cancer and colorectal cancer, predisposition can be determined with genetic testing. However, an absolute diagnosis of those diseases cannot be made (Heshka et al., 2008).
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.
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.
Hemophilia is a genetic disorder in which the blood does not clot normally. It’s a rare bleeding disorder that has been happening since ancient times. Men are the ones mainly affected by it. One in five thousand men born each year have Hemophilia. Yet women can be carriers and just like men, they can suffer from symptoms too. Women can only have Hemophilia if their father does and mother is a carrier, it’s uncommon but can happen. Hemophilia affects all races and ethnic groups. It’s all based on your family tree. A man with Hemophilia will pass the gene down to his daughters, leading to them becoming carriers. A woman with the gene has a fifty percent chance of passing the gene down on to her sons. If there was no family history of Hemophilia but the woman is a carrier, a son could possibly be the first one in the family to have it. If there’s one thing for certain about hemophilia is that it does not discriminate against anyone. Hemophilia has affected royalty as well as high and low class men all throughout history.
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.
of passing the gene to each child with each pregnancy. The sex of the child helps to determine the expression of the gene. There is a 3-4 times more chance of a son having the gene than a daughter. Only about 10% of TS patients get severe enough to
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.
Unfortunately this disease is passed down from the parent to the child genetically. “If both parents have sickle cell trait (each have one normal hemoglobin gene and one sickle cell gene), the child has a 50% chance of inheriting sickle cell trait (one normal gene, one sickle cell gene), 25% chance of inheriting sickle cell disease (two sickle cell genes), and 25% chance of not inheriting either the trait or the disease (two normal genes) (Harvey)”.
Hemophilia is an inherited disease which slows the blood clotting process due to missing or reduced clotting factor proteins. Although uncommon, it is possible for Hemophilia to be acquired if the body produces antibodies that attack clotting factors. Only 30% of Hemophilia cases are due to spontaneous mutations. Hemophilia is a rare disorder. Approximately 1 in 5000 males has Hemophilia. The disorder is much more common in males than females. It is estimated that over 400000 individuals worldwide (.006% of the world’s population) have Hemophilia (National Hemophilia Foundation). Individuals with Hemophilia do not lose blood at a faster rate than others but they do bleed for longer. Small cuts and bruises are not usually life threatening but any serious injury or invasive surgery has the potential to be life threatening because of this disorder. Hemophilia can also cause internal bleeding, which can cause organ or tissue damage. This can be life threatening as well. There are two types of Hemophilia. Hemophilia A is due to the individual producing low levels of clotting factor VIII while Hemophilia B is due to the individual producing low levels of clotting factor IX. Clotting factors are proteins which interact with platelets so that clots can be formed. Clotting factors allow the platelets to clump together to seal cuts and tears in blood vessels to prevent excessive bleeding. Hemophilia can be mild moderate or severe depending on the amount of clotting factor in the blood. Individuals with mild Hemophilia have 6% to 49% of the normal amount of clotting factor. Individuals with moderate hemophilia have 1% to 5%, while those with severe have less than 1% of the normal clotting factor (National Hemophilia Foundation). Indivi...
Severe bleeding. That's what happens when a person has Hemophilia. "More than 25,000 people in the United States have Hemophilia" (Description of Hemophilia 1). "Hemophilia is an inherited deficiency of a blood-clotting factor that results in episodes of dangerous bleeding" (Hemophilia 1). As you read through this essay, you will learn more about the disease. Some characteristics should be. First you will learn about the diagnosis and prognosis of Hemophilia. Second you will learn the causes and incidences of Hemophilia. And finally you will learn about the treatments and ways of life for the people with Hemophilia.
Parents now have the possibility of testing genes for mutations and genetic problems (BBC News).
Hemophilia is a rare genetic blood disease characterized by the inability or impairment of blood to clot or coagulate when a blood vessel is broken. This inherited disease is caused by an insufficiency of blood proteins, known as factors, which participate in blood clotting often by sudden gene mutation. Hemophilia can be characterized into three distinct types, including Hemophilia A, Hemophilia B, and Hemophilia C. Biologically, hemophilia is a unique genetic disorder that