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Genetic disorders hemophilia essay
Genetic disorders hemophilia essay
Genetic disorders hemophilia essay
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Hemophilia: A Rare Bleeding Disorder Briza Ramirez St. Pius X – St. Matthias Academy General Biology, Period 5 Ms. Washington Hemophilia: A Rare Bleeding Disorder 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... ... middle of paper ... ...(CBC), Activated Partial Thrombo Plastin Time (APTT) Test, Prothombin Time (PT) Test, and Fibrinogen Test”. Disorder Treatment There is no cure for hemophilia yet but they can stop or keep the bleeding episodes from happening by injecting themselves with “purified clotting factors.” Additional treatment is necessary only if the purified clotting factors were attacked by the person’s immune system. Other Interesting Facts 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.
...ulation respectively. In terms of assessment, hemophilia is suspected in children with excessive bleeding, easy bruising, spontaneous hematuria, and epistaxis (Ignatavicius & Workman, 2009). A low prothrombin and bleeding and low factor VIII in indicative of hemophilia A while an extended thromboplastin time and low factor IX is indicative of hemophilia B. Hemophilia is a lifelong disease and treatment regimens are aimed at reducing the signs and symptoms associated with it. Type A and B are managed with supplementation plasma concentrate Factor VIII and factor IX respectively, liver transplant, and gene therapy (Colbert, 2009).
Coumadin, whose generic name is Warfarin, and is manufactured by Bristol-Myers Squibb Company, is an anticoagulant medication. It is more commonly known as a “blood thinner”; however it does not actually thin the blood. An anticoagulant helps your body control how fast your blood clots and it prevents clots from forming during certain medical conditions. Medications such as Coumadin may prevent an already present clot from getting any larger and may also prevent a piece of the clot from breaking off and traveling to your heart, brain or lungs. Anticoagulants do not dissolve blood clots but with time, clots may dissolve on their own. (Cleveland Clinic, 2014)
Thrombocytopenia affects 6% to 10% of all pregnant women and, other than anemia, is the most common hematologic disorder in pregnancy (McCrae, 2010). The blood consists of three main ingredients: red blood cells, white blood cells, and platelets. Each plays an essential function to provide the human body with elements and protects the body against any exterior viral and infection. Platelets are responsible to help blood to clot. The deficiency or disorder of platelets lead to disease called Thrombocytopenia. This issue is diagnosed when platelets are less than 150,000 platelets per microliter of blood (Erkurt, et. al, 2012).
In some individuals with severe hemophilia, the factor VIII replacement therapy is identified as a foreign substance by their immune system. If this happens, their immune system will make antibodies against factor VIII. These antibodies will inhibit the ability of the factor to work in the clotting process. The higher the antibody or inhibitor level, the more factor VIII replacement therapy it takes to overcome the inhibition and produce clotting. This can complicate the treatment of a bleed. The good news is that there are different types of therapies available to successfully treat most individuals who develop inhibitors.
eventually made it’s way down to the Russian Czar’s family. Hemophilia does not target anyone nor race in particular. It’s only because men have only one X chromosome there isn’t another one like women have to offset it. Women can experience problems from being carriers, but not nearly as extreme as men with it do. Having severe Hemophilia has a huge impact on a man’s life. He cannot think or act rash. If he chooses to, he is risking his life. From a bloody nose to a pulled out tooth, it will take longer for the bleeding to reduce and stop. Due to the fact that Hemophilia is only on the X chromosome the chance a boy will get it all depends on his mother. If she doesn’t have it he is safe, but if she does he has a fifty percent chance of getting it. Awareness about Hemophilia is continuing to be spread just like treatment continues to advance.
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.
Normally fibrin, the primary protein involved in clot formation, functions under the influence of regulatory mechanisms such as the anticoagulant protein antithrombin III and the enzyme plasmin, which is involved in the breakdown of clot formation in a process known as fibrinolysis (Levi, 2013). As the body’s regulation of clot formation and disintegration becomes disrupted in DIC, micro thrombi development and uncontrolled bleeding due to consumption coagulopathy, a lack of available clotting factors in the blood, occur which is a life threatening
The clotting cascade is essential in the human body to allow for healing of a broken artery or vein. If we don’t have these clotting factors or clotting cascade it can lead to serious consequences such causing bleeding out eventually leading to death as shown in haemophilia. The clotting cascade consists of primary and secondary haemostasis. Primary haemostasis being the formation vasoconstriction and platelet aggregation at the site of injury and secondary haemostasis being the formation of a clot.
Coagulation is a active process and the understanding of the blood coagulation system has progressed over the current years in anaesthetic practice. Regular coagulation pathway signifys an equilibrium between the pro-coagulant pathway that is accountable for clot development and the mechanisms that slow down the same beyond the injury site. Imbalance of the coagulation system may happen through serious illness, which may be secondary to many factors leading to a tendency of either thrombosis or bleeding
Hemophilia is an inherited genetic disease that causes abnormal bleeding and the inability to make blood clots properly in the body. People with hemophilia are likely to bleed more following the events of an injury or surgery. There are two major types of hemophilia; Hemophilia A and Hemophilia B. Hemophilia A is the most common type of hemophilia. The disorder mostly affects males and causes increased bleeding. According to healthline.com, hemophilia A is caused by a deficiency in factor VIII and eight out of ten people who are diagnosed with hemophilia have hemophilia A. Hemophilia B is a genetic disorder that is caused by a low amount of blood protein; factor IX. Because of the lack of blood protein, blood cannot clot well to control bleeding. Hemophilia A and hemophilia B are similar but are caused by different substances in genes.
For mild hemophilia, treatment is often not required. Replacement therapy can be used to for moderate hemophilia. It requires the individual to blood infusions and can be done from at home. There is also Desmopressin which can be used for moderate Hemophilia which replenishes factor VIII proteins. Gene therapy is the newest and most promising treatment but is not safer than Desmopressin or replacement therapy. It’s usually a one-time treatment that transfers genes using viral or lysosome vectors.
Hemophilia is one of the oldest inherited blood disorders, dating back to as far the 2nd century A.D. Low levels of the blood clotting proteins Factor VIII and Factor IX are what cause this blood disorder. Symptoms in people who are affected by this blood disorder, are internal bleeding, bleeding for prolonged periods of time after surgery or injury, spontaneous bleeding in the joints, and nosebleeds. Also, people with inhibitors may be at increased risk for joint disease, or even death if they are not diagnosed early enough.
First off, I will tell you about the prognosis and the diagnosis of Hemophilia. "One of the ways to diagnose Hemophilia is to check the family history of the patient. If your family had Hemophilia, then you have a greater chance of having it, then somebody that doesn't have it in their heredity line" (Hemophilia 1). Another way to diagnose it is to run tests on the blood. "One of the screening tests is used to check for primary hemostasis. This test would come back normal if the platelet count, and bleeding time were normal. The second test would check the secondary hemostasis. A normal result would be that there is enough fibrin formed to complete blood clotting. In both tests, negative results would show abnormally low levels of each. Then if they came back negative, the diagnosis would be that they do have Hemophilia" (Description of Hemophilia 1-2). "The prognosis then could be one of the three categories of Hemophilia, they are: mild, moderate, and severe. A person with mild hemophilia may only have problems with bleeding when they have surgery, major dental work, or when they have a severe injury. A person with moderate hemophilia can have the same problems, plus bleeding problems with more minor injuries. A person with severe hemophilia can have what are called spontaneous bleeds. Bleeding that starts inside the body for no reason" (What is Hemophilia 1).
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
A great amount of studies have been conducted on the blood clotting disorder, hemophilia, and it’s plenty of ways to manage the disease. Scientists debate the most effective form of treatment, whether it is doses of factor eight and factor nine injections or gene and cell therapy. Different researchers have provided contradictory evidence to other studies in their quest to find the optimal treatment for hemophilia patients. This paper will address the benefits of each treatment and their efficiency in reducing the patients’ symptoms.