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Essay on therapies in hemophilia
Essay on therapies in hemophilia
Essay on therapies in hemophilia
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Hemophilia
Condition Overview
Hemophilia a hereditary blood clotting disease. It is characterized by a lack of blood clotting factors, which results in excessive bleeding. (Chabner, 2014, p. 517). A person with hemophilia has a normal platelet count, however, there is a deficiency in factor VIII or IX. The lack of these clotting factors results in prolonged coagulation times. Hemophiliac patients often bleed into weight-bearing joints, such as the knees and ankles. (Chabner, 2014, p. 517). Hemophilia is hereditary and is often inherited by male children. (Yi-Bin Chen, 2013).
Pathophysiology
Coagulation, also known as blood clotting, requires many different chemicals reactions and substances in order to complete the process. The first sign of coagulation after an injury to the blood vessels or tissues is the collection of sticky platelets at the site of injury. Once the platelets begin to aggregate, clotting factors (plus calcium, prothrombin, and thrombin) will help convert fibrinogen to fibrin in order to form the final product, the blood clot at the site of the injury (Chabner, 2014, p. 508).
In a hemophiliac patient, the formation of the fibrin clot does not form at all or it takes much longer than the normal 15 minutes due to the lack of clotting factors VIII or IX (Chabner, 2014, p. 508). There are two common types if hemophilia. Hemophilia A is when the person is missing factor VIII and hemophilia B is when the person is missing factor IX. (Biogen Idec). Both types of hemophilia have the same symptoms and risk factors; it is simply based off of which blood-clotting factor is missing.
Risk Factors
The most common risk factor associated with hemophilia is a high risk of prolonged or excessive bleeding. Deep internal bleeding and bleeding into joints are other risk factors of hemophilia. (Mayo Clinic, 2011). rthritis and arthropathy can also occur as a result of bleeding in the joints. (Health Grades, 2013).
A sex-linked gene controls hemophilia. This makes hemophilia exclusively restricted to males. Women can carry the gene without being affected themselves (Laurence Urdang Associates, 1981, p. 188).
Symptoms
Symptoms of hemophilia include large or deep bruises, unexplained and excessive bleeding, blood in urine/stool, and joint pain/swelling. (Mayo Clinic, 2011). One of the most common symptoms is prolonged coagulation.
Tests & Treatment
A hematologist will obtain a blood sample from a suspected hemophilia patient to examine the blood for blood clotting deficiencies. A partial thromboplastin time (PTT) is a blood-clotting test that can be used to measure clotting factors and determine any bleeding problems.
Carlton suffered an acute tissue injury on his foot after stepping on a sharp edge shell, which disrupted the layers of the skin. Immediately after an injury occurs, an inflammatory response begins, which serves to control and eliminate altered tissue/cells, microorganism, and antigens. This takes place in two phases. 1) The vascular phase, in which small vessels(arterioles, venules) at the site of injury undergo changes. Beginning, with
Haemolytic colonies were classified by a white ring around the patched colony, indicating that haemolysis of the blood agar occurred. Conversely, non-haemolytic colonies were classified by a lack of a white ring, which indicated that no haemolysis took place.
Originally thought to be an obscure illness, it was later identified as the most common genetic disorder for those with a Western European background. However, due to its low penetrance rate, only one out of two hundred are said to have the condition. Hemochromatosis is treated by the practice of bloodletting. It is one of the oldest treatments recorded in history, with its earliest records dating as far back as 3000 years ago in ancient Egypt. Routinely bleeding is beneficial as it not only reduces the iron in the bloodstream, but also combats issues such as heart disease and high blood
○ ABO incompatibility. People with an O blood type have antibodies that can attack blood cells in type A or B blood. If a mother 's blood type is O and her baby 's blood type is A or B, her antibodies may destroy the baby 's red blood cells and cause hemolytic 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.
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.
A person with hemophilia faces great problems. Any little scrap or cut even burse can give the person a hard time. With this condition a person faces prolonging bleeding. Surgery or evening getting a tooth pulled isn’t a great idea. This condition causes the blood clotting process to slow down. If you have this disorder you’ll be sure to know. You have be playing a street game of football one minute fall and scrap you’re your knee the next. And be hospitalizing at the end of the day. Even serious complication can result in bleeding into the joint, muscle, brain or other internal organs (U.S. National Library of Medicine, 2012) . You may not know if you have hemophilia until abnormal bleeding occurs after a serious injury or surgery. This may be hard for someone to take in.
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)
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.
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).
There are various types of this disorder. It depends on gene factor relating to the child’s parents. The more altered genes, the more severe your condition. Hemoglobin particles are made of alpha and beta parts that can be affected by mutations. There are three major forms of this disorder that are categorized based on the severity of symptoms. They are minor, intermediate and major. Children with the minor or trait of the disorder do not experience any symptoms and may not require treatment. Children with the intermediate f...
platelets on a slide, you would need to have the specimen recollected because of a clot, or