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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 rare bleeding disorder that slows down the blood clotting process. This happens because the blood lacks sufficient blood-clotting proteins. According to Salem Health, “Formation of a blood clot involves the participation of nearly twenty different substances, most of which are proteins synthesized by plasma” (1436). When individuals lack these specific proteins, the human body cannot clot properly therefore, forming hemophilia. Hemophilia is also a genetic disorder, meaning this disorder can be passed down from the parents to their offspring. In most types of hemophilia, the disorder is located on the X chromosome. Disorders that are located on the X chromosomes will appear in males more than females. The reason behind this …show more content…
One of the symptoms is if there is blood in your urine or stool. In addition to this, other symptoms are, if the individual has unusual bleeding after getting vaccinations, unexplained and excessive bleeding from an injured, and having nosebleeds without any explanation. Clotting plays a big role in the healing process of numerous injuries. According to UXL Science, “Clotting means the blood thickens to the point where it stops flowing. Without this rapid clotting, people would be in danger of bleeding to death from very minor injuries” (1). This process stops and helps heals a wound and if the development of clotting does not work properly the individual can have several problems when they get injured. While someone is bleeding, their body automatically collects blood cells together to form a clot that stops the bleeding. Internal bleeding is a greater health concern and the Mayo Clinic has also stated, “That internal bleeding can damage your organs and tissues, and may be life-threatening” (2). It is harder to heal internal damage in a person’s body, therefore if they do get hurt internally it is important the human body knows how to heal itself properly and quickly. As stated by the Mayo Clinic, “A simple bump on the head can cause bleeding into the brain for some people who have severe hemophilia” (6). Other complications that come with this disorder is that internal bleeding that occurs deep …show more content…
One of the types is called Hemophilia A and this is the most common form of hemophilia people get. Hemophilia A is when the body lacks an important protein that helps form fibrin, the protein is known as factor VIII. Without fibrin, the body cannot clot properly. This is because when fibrin is combined together they form a hemostatic plug, or in other words a clot, over the wound and this helps the healing process. UXL Science also stated, “About eighty five percent of all hemophiliacs are missing the gene that instructs the body’s cells how to produce factor VIII” (4). For people that have hemophilia they are most likely missing a protein that help with the clotting process. UXL Science also states, “Hemophilia B is a less common type of genetic disease caused by a deficiency in another necessary protein, called factor IX” (5). Factor IX is also a clotting protein just like fibrin. Hemophilia B is also called Christmas disease because it was renamed after a patient who had the disorder, his name was Stephen Christmas. In almost every type of bleeding disorder, proteins are either deficient or missing and therefore fibrins are unable to form. Bleeding is caused by a rupture in a blood vessel and the human body automatically starts its damage control process. The first thing that happens is that the platelet cells in the blood move together to the wound site and are held in place by chemical strands as known as fibrin. This shows just how
In septic patients, increased levels of PAI-1 inhibit plasminogen activator (t-PA), which converts plasminogen to plasmin. Release of fibrin inhibits fibrinolysis by activation of thrombin-activatable fibrinolysis inhibitor (TAFI). In addition, the release of PAF causes platelet aggregation. This combination of inhibition of fibrinolysis, fibrin strand production and platelet aggregation contribute to a state of coagulopathy. This can lead to microcirculatory dysfunction with isolated or multiple organ dysfunction and cell death. Mr Hertz’s coagulation profile showed a fibrinogen level of 5.6 g/L, indicating that coagulopathies were underway in his system.
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)
Symptoms and Causes Thrombocytopenia leads to excessive or unexplained bruising, nose bleeds, and severe bleeding that does not stop immediately. This can cause internal bleeding and extends to severe brain bleeds.... ... middle of paper ... ... 2. 2-3 Cohen, R., Garcia, C.A., Mena, D., Castellanos, M., Wu, L.T. April 2012 -. “Case Review: Idiopathic Thrombocytopenia Purpura.”
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 into joints, such as the knee, elbow, or ankle, but bleeding can occur anywhere in the body. People with hemophilia bleed longer, not faster.
Hemophilia is a rare bleeding disorder that slows the blood clotting process, which is not normal. Some people with Hemophilia may just have a little bit of “clotting factor” or no clotting factor at all (National Institute of Health [NIH], 2013). Clotting factor is a protein in blood that controls bleeding and they are needed the blood to clot normally. In order to help the blood clot, clotting factors work with “platelets” (National Institute of Health [NIH], 2013). Platelets are small blood cell fragments that form in the bone marrow, a tissue in the bones that is similar to a sponge. The functions of platelets have a very important role in blood clotting; the role of a platelet is to stick together (by the help of clotting factors) to block cuts, break on the carriers of blood (veins or arteries) throughout the body, and stop the bleeding when “blood vessels” (National Institutes of Health [NIH], 2013) are injured. Blood vessels are tube like structures carrying blood through the tissues and organs, like a vein, artery, or capillary. People with hemophilia do not have enough “clotting factor VIII or IX” (World Federation of Hemophilia [WFH], 2013) in their blood, which results to prolonged bleeding or oozing, meaning that bleeding can last longer (though, not faster) than usual after surgeries, accidents, or having teeth pulled out at the dentist. Clotting factor VIII, which can also be called as “anti-hemophilic factor” (AHF, for short) (Patient.co.uk, 2011), is a blood clotting protein that is necessary for humans to have. Clotting Factor IX is a protein that i...
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.
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 caused by a defect in one of the genes that determines how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosomes. Females have two X chromosomes, while males have one X and one Y. Only the X chromosome carries the genes related to clotting factors. A male who has...
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.
Over one million Americans in the United States are living with or have been diagnosed with leukemia. That’s a big amount of people. I chose to do my research paper on leukemia because two years ago I lost my grandma to the cancer. I wanted to know more about the disease and what was happening to her. I researched the different types, risk factors, symptoms, treatment, and what kind of research is being done to help cure leukemia. Leukemia is a cancer of the blood cells that start in the bone marrow. During leukemia the bone marrow starts to make a lot of abnormal white blood cells or “leukemia cells”.
Today i'm going to be talking about Hemophilia and the general overview of it. I will also talk about any potential cures. I will be talking about what Hempohilia can do to your body. I will also be talking about if theres a cure or just a treatment to make it less worse. I will also be talking about how people with Hemophilia deal with this disease. I will also explain how people will benefit from extended research on thi s topic. I’ll also talk about my personal opininon on this topic and what I think about it. So for my first question I’m explaining what the characteristics of Hemophilia are. The characteristics of Hemophilia are not very deadly but can be very annoying I’ll also explan the genetic causes of this disease.
Rodak, B. F., Fritsma, g. A., & Doig, K. (2007). Hematology: Clinical Principles and applications. St. louis: Saunders Elsevier.
Immediately after wounding, the first phase of hemostatsis sets in motion with vascular constriction which restricts the blood flow in the blood vessels followed by the platelets plug formation which creates a temporary blockage of blood flow and then coagulation takes place with fibrin clot formation. The clot and surrounding tissue release pro-inflammatory growth factors and cytokines such as transforming growth factor (TGF)-13, platelet-derived growth factor (PDGF), fibroblast growth factor (FGF) and epidermal growth factor (EGF).
Platelets, which are also produced in the bone barrow, are checked on a Complete Blood Count with Differential. Platelets help stop bleeding from injury by creating clots. If your CBC blood test shows low platelet levels, you might be more susceptible to bleeding. High platelet levels could mean that you have an increased risk of internal clots.