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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...
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...(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.
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.
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)
...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).
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).
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.
*Diagnostic Evaluation:** 1 - 1. Complete Blood Count (CBC): - WBC: [normal/high] - Neutrophils: [normal/high] - Other parameters within normal limits. 2. What is the difference between a'smart' and a'smart'? Urinalysis: Within normal limits, ruling out urinary tract infections.
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.
The changes in f8 and f9 gene are responsible for hemophilia A and B. the f8 gene codes for a protein called coagulation 8. This protein is responsible for the blood clotting process. After an injury blood clots protect the body by sealing off the area of injury. Mutation in the f8 and f9 gene can lead to the abnormal form of the protein. Also can lead to a reduction of the coagulation pro...
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.
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.
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.
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 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.
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.