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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 the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.
The severity of hemophilia is related to the amount of the clotting factor in the blood. About 70% of hemophilia patients have less than one percent of the normal amount and, thus, have severe hemophilia. A small increase in the blood level of the clotting factor, up to five percent of normal, results in mild hemophilia with rare bleeding except after injuries or surgery.
This is not a problem when a person with hemophilia has a simple cut or scrape. He doesn’t bleed any faster than the average person. He can hold pressure on the cut and platelets in the blood will stop the bleeding.
The problem for people with hemophilia is bleeding inside the body, especially bleeding into joints like the knees, elbows, and ankles. When bleeding happens inside the joint, it becomes very swollen and painful. Repeated bleeding into a joint can cause a type of crippling arthritis. Bleeding inside other parts of the body, such as the brain, throat, and abdomen can be life-threatening. A person with mild hemophilia may only have problems with bleeding when he has surgery, major dental work, or a severe injury. A person with moderate hemophilia will have those problems plus bleeding problems with more minor injuries such as a hard bump to the knee. A person with severe hemophilia can have what are called spontaneous bleeds - bleeding that starts inside the body for no known reason.
Hemophilia is classified as mild, moderate or severe, depending on the amount of clotting factor a person has in his body. Severe hemophilia is actually the most common form. People with hemophilia are born with the disorder and have it all of their lives. You can't ca...
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...ed HIV.
Factor VIII gene is characterized and cloned.
1985
Viral-inactivated factor concentrates become available.
ELISA and Western Blot Test are developed to test antibodies for HIV.
1989
Hepatitis C virus, previously called non-A, non-B, is identified.
1991
Testing for hepatitis C is introduced.
1992
First recombinant factor VIII products become available.
1995
First case of variant Creutzfeldt-Jakob disease, the human form of Mad Cow disease, is identified in the U.K.
1997
First recombinant factor IX products become available.
1998
Gene therapy trials on humans begin.
Effective treatment for hemophilia is available, but as yet there is no cure. Bleeding can be treated with an injection of clotting factor that is made from blood or biotechnological ingredients called recombinants. Bleeding stops when enough clotting factor reaches the affected area.
Works Cited
I. Principles Of Genetics 7th Edition, Robert H. Tamarin. 2002
II. World Federation of Hemophilia. www.wfh.org
III. Hemophilia of Georgia. www.hog.org
IV. Hemophilia Village. Hemophiliavillage.com
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.”
• Hemolytic disease of the newborn. Hemolytic disease happens when a mother 's disease fighting system (immune system) attacks her baby 's red blood cells. Proteins (antibodies) in the mother’s blood destroy the baby 's red blood cells. Two conditions can cause hemolytic disease:
Chronic Wasting Disease (CWD) is a fatal neuro-degenerative, transmissible spongiform encephalopathy (TSE) of the family Cervidae (Hamir, et.al., 2006). The family Cervidae includes mule deer, Odocolileus hemionus, white-tailed deer, Odocolileus virginianus, Rocky Mountain elk, Cervus elaphus nelsoni, and moose, Alces alces shirasi, among others (Sigurdon & Aguzzi, 2007). CWD is a prion disease, meaning it is a protein caused infection, that occurs naturally in the deer family (Song & Lawson, 2009). This protein is suspected to be an abnormal isoform (PrPSc) of the naturally occurring host prion protein (PrPC) (Blanchong, et. Al., 2009). Bovine spongiform encephalopathy (BSE), mad cow disease, is a similar prion effecting cattle as CWD affects Cervidae. Although, scientists are not sure of transmission route it is suspected that CWD is transmissible and infectious through direct contact with infected individuals or through environmental contamination (Song & Lawson, 2009). Tests have been performed showing susceptibility of altered mice to oral transmission, mimicking the suspected route of entry, and the incubation appears slower but lasts longer with oral infection (Trifilo, et.al., 2007). The approximate time from the initial infection to death is three years.
In some cases, this infection can cause a dangerous complication called hemolytic uremic syndrome (HUS).
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.
Chronic Wasting Disease is a highly transmissible, deadly neurodegenerative disease that affects cervids in North America (Belay et al., 2004; Saunders et al., 2012). There are only four types of cervid that are known to get this disease which include elk, mule deer, white-tailed deer, and moose (Chronic Wasting Disease Alliance). It has been classified has a transmissible spongiform encephalopathy (TSE), otherwise known as a prion disease (Belay et al., 2004). A prion is an irregular, pathogenic agent that causes abnormal folding of specific proteins called prion proteins. These proteins are mostly located in the brain (Chronic Wasting Disease Alliance). The abnormal folding of this protein causes neurodegenerative diseases in a variety of species including humans, sheep, cattle, and deer (Abrams et al., 2011).
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.
Hepatitis is the inflammation or swelling of the liver. The inflammation can happen from different injuries or viral forms of a disease. People who experience hepatitis have the symptoms of malaise, nausea, vomiting, loss of appetite, fever and jaundice. There are six known forms of Hepatitis which are Hepatitis A, Hepatitis B, Hepatitis C, Hepatitis D, Hepatitis E and Hepatitis G. The presence of hepatitis in the body can be very risky and cause severe death if not taken care of. Hepatitis is a severe issue that affect many people around the world like third world countries and cross contamination can occur mainly in health care places due to the exposure of patients with the disease and accidents handling blood or instruments, Hepatitis A,B,C,D,E and G are distinct diseases that differ in transmission and vaccines to prevent them or cure them.
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.
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.
However, for patients with coagulation disorders, bleeding can serious or even fatal. Other serious early complications include hypospadias, glanular necrosis, and glanular amputation. These serious early complications of circumcision require prompt surgical intervention.
The second one is beta thalassemia. This occurs when similar gene defects affect production of the beta globin protein. It happens mostly in people of Mediterranean origin, Chinese, other Asians, and African Americans. You need both alpha- and beta-globin to make hemoglobin. If you have one damaged gene, you may have mild anemia and probably won't need treatment. This is called beta thalassemia minor or beta thalassemia trait. It happens when you get a normal gene from one parent and a thalassemia gene from the other. When both genes are damaged, it means you got a thalassemia gene from each parent. You may have moderate or severe anemia. If you have moderate anemia, you may n...