Abstract
Sickle Cell Anemia is a hereditary disease that changes the smallest and most important components of the body. A gene causes the bone marrow in the body to make sickled shapes, when this happens; it causes the red blood cell to die faster. This is what causes Hemolytic Anemia. Older children and adults with sickle cell disease may experience a few complications, or have a pattern of ongoing problems that shorten their lives. The most common and serious complications of sickle cell disease are anemia, pain, fatigue, and organ failure. Today there are many alternatives and opportunities that a sickle cell patient may consider. One outlined in this paper is the Hydroxyurea method.
Sickle Cell Anemia
Sickle Cell Anemia takes
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Thousands of years ago, a genetic mutation occurred in people from the Mediterranean basin, India, Africa, and the Middle East. As the Malaria Epidemic attacked people of these countries, carriers of the defective hemoglobin gene survived. Carrying one defective gene means that a person has a sickle cell trait. Two parents with the trait will produce a child with sickle cell anemia. People of these countries migrated and spread to other areas. In the Western Hemisphere, where malaria is not much of a problem, having the abnormal hemoglobin gene has lost its advantage. Any child born from parents that each has the trait will be born with the disease.
Approximately, two million Americans carry the sickle cell trait. 72,000 people are affected by sickle cell anemia in the U.S., most of whose ancestors had come from sub Saharan Africa, Spanish speaking regions, and Mediterranean countries such as Turkey, Greece, and Italy. In Hispanic American births, one in every thousand people acquire sickle cell anemia. The symptoms created by the blockage of blood flow can vary from patient to patient. Some have milder symptoms than others. Physicians use Hand-foot syndrome on patients to determine the disease. Sickle cells that clog small blood vessels in the hands and feet are one characteristic of the disease. Symptoms the patient suffers are swelling of the hands, feet and various joints. The pain
Sickle cell anemia is a hereditary disorder that mostly affects people of African ancestry, but also occurs in other ethnic groups, including people who are of Mediterranean and Middle Eastern descent. More than 70,000 Americans have sickle cell anemia. And about 2 million Americans - and one in 12 African Americans - have sickle cell trait (this means they carry one gene for the disease, but do not have the disease itself).
When Malaria is present and infects red blood cells, parasites can infect cells carrying defective hemoglobin which may result in death. Allele frequency changes over time depending on the pressures or circumstances facing a particular population. African populations are especially impacted by both malaria and sickle cell anemia. Depending on the impacted population, allele frequency often shifts and well suited organisms are likely to survive and allele frequencies can increase. When a population is effected by disease or other circumstances, allele frequency may decrease or change. HbA (normal hemoglobin) and HbS (defective hemoglobin) have varying frequencies and while the HbS gene is present in populations it is
Sickle cell disease (SCD) occurs in 1 out of every 365 African American births compared to 1 out of 16,000 Hispanic-American births (1). SCD is a group of red blood cell disorders in which patients have a sickle or moon-shaped red blood cell due to an abnormal S hemoglobin. While sickle cell disease is relatively rare in American births, this is an alarming statistic among people of Sub-Saharan (west and central) African descent. An interesting fact is that SCD occurs more often among people from parts of the world where malaria is or was common, such as Sub-Saharan Africa (1). In addition, it is believed that people who carry the sickle cell trait are less likely to have
Sickle Cell Disease is an illness that affects people all across the globe. This paper will give a description of the sickness through the discussion of the causes, symptoms, and possible cures. Sickle Cell Disease (SCD) is a "group of inherited red blood cell disorders."(1) These disorders can have various afflictions, such as pain, damage and a low blood count--Sickle Cell Anemia.
In this article, sickle cell anemia is defined as a hereditary disease that destroys red blood cells by causing them take on an elongated and rigid "sickle" shape. In addition, a different type of hemoglobin called Hemoglobin S, is the protein in red blood cells that carry oxygen throughout the body. This protein starts to wrap around other red blood cells when oxygen is lacking to form a helical shape. Once this happens the cells cluster together and elongate and the cells start to "sickle". A person who has sickle cell anemia can only get it if both of their parents carry the sickle cell trait, if only one parent has the trait then there children are at risk for having the trait.
Sickle cell anemia is an anemia that is inherited and mostly affects people whose heritage can be traced back to places where malaria was prevalent. There are approximately 100,000 Americans that have the disease and many more with the trait. Several of my family members are afflicted by this medical condition that causes red blood cells to take on an irregular shape.
Hydroxyurea is a treatment therapy that is currently used to treat sickle cell disease. There are a total of 23 single nuclear polymorphisms (SNPs) that are involved with sickle cell disease. When hydroxyurea is given at an optimal maximum dose, it will act on the BCL11A gene and increase the fetal hemoglobin concentrations. There are a total of 5 SNPs that are associated with the BCL11A gene. Some parameters that were observed are differences in pharmacodynamic effects (PD), percent fetal hemoglobin (%HbF) and maximum tolerated dose (MTD). Hydroxyurea positively affected all of these parameters. It also helped tolerate the symptomatic effects of sickle cell disease. Patient reported outcomes allow practitioners to optimize dosage of hydroxyurea in conjunction with other medications. Thus far, hydroxyurea treatment has been effective in treating sickle cell disease.
The red fluid that circulates in our veins and arteries is none other than blood! Is blood important? But of course it is! Blood’s main function is to act as the body’s transport system and also plays a major role in the body’s defense system against infections (America’s Blood Centers, 2012). Among many things, blood contains red blood cells, the component that carries oxygen to cells, and carbon dioxide away. (ABC, 2012). However, blood disorders pose a threat to the health of the body, sometimes requiring the host to have blood transfusions in order to survive (National Institute of Health, 2012). A particular blood disorder of interest is sickle cell anemia, a condition that affects 300,000 people born every year!
This mutation paper is to give information on the Sickle Cell disease. This is a negative disease to have because the Sickle Cell Disease decreases the health of the person that has the disease and limits what they can and cannot do. Sickle Cell Disease is a red blood cell disease that causes ab normal hemoglobin to from in the veins. Hemoglobin is the protein that carries oxygen throughout the body to help with the respiratory system. The cause of the genetic mutation is inheritance or getting the disease from the parents the disease is found on chromosome 13 while the hemoglobin is still in beta phase on gene HB A. The disease typically shows symptoms within the first 5 to 6 months of birth and being diagnosed with Sickle Cell Disease. The symptoms include painful swelling on the hands and feet, and Jaundice, which causes a white color to form under the eyes, and turns the skin color yellow.
Sickle cell crisis is an acute form of sickle cell disease where pain and sickling are extensive (Byar, 2013). SCD is a genetic disease that predominantly affects black people of African decent (Gersten, 2016). Abnormal hemoglobin chains are the main issue with SCD (Byar, 2013). Normal hemoglobin chains are comprised of 99% hemoglobin A (HbA) however, in SCD an abnormal form of the gene, hemoglobin S (HbS) is present in approximately 40% of total hemoglobin (Byar, 2013). In order for a person to be born with SCD, both parents must carry the abnormal gene, HbS (Byar, 2013). HbS is extremely sensitive to the changes in oxygen amount of the RBC and when exposed to decreased oxygen the HbS cause the RBC to distort and become sickle-shaped,
The only cure for this disease is a bone marrow transplant also known as stem cell transplant. This is usually saved for patients who are under the age of 16, since the risks get larger with age. The other treatments include medications such as : antibiotics, pain relieving medicines called Hydroxyurea . When taken daily, hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations. Hydroxyurea seems to work by stimulating production of fetal hemoglobin, a type of hemoglobin found in newborns that helps prevent the formation of sickle cells. The bad side of Hydroxyurea is that it increases your risk of infections, and there is some concern that long-term use of this drug might cause problems later in life for people who take it for many years. More study is needed and you should always ask your doctor if you are healthy enough to take it.
The sickle-shaped red cells interfere with normal blood flow by plugging up small blood vessels. Sickle-cell anemia occurs when an individual inherits a sickle-cell gene from each parent. Programs have been initiated to detect carriers, who do not themselves show the trait; such carriers are informed that a child resulting from the union of two carriers runs a one in four risk of having sickle-cell disease. Therapy for sickle-cell anemia is largely symptomatic. Preventive administration of penicillin to affected children by the age of four months greatly decreases mortality from infections.
Sickle Cell Disease is an autosomal recessive genetic disease that occurs due to a mutation in the β-globin gene of hemoglobin. Autosomal meaning that it is not linked to a sex chromosome, so either parent can pass on the gene to their child. This mutation is a result of a single substitution of amino acids, Glutamic for Valine at position 6 of a β globin chain. The presence of this mutation causes
Sickle Cell Anemia is a group of disorders that cause red blood cells to become misshapen and break down. Sickle Cell Anemia affects many people all over the world; Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans (Ashley-Koch, Yang and Olney). Sickle Cell Anemia causes your red blood cells to be thin, stiff, and shaped like a sickle. But your red blood cells are supposed to be round and soft. When a person is diagnosed with sickle cell anemia the blood cells start to become clogged blood vessels, which can cause a great amount of health issues including: infections, stroke, and acute chest syndrome. People get sickle cell anemia by inheriting a mutated gene from both of their parents. On the down side, there is not currently an effective cure for sickle cell anemia, there are several different therapeutic approaches to treating and attempting to cure the disease and help people who are affected with sickle cell anemia better manage their symptoms. There have also been several great scientists that dedicated a lot of research to help find a cure for sickle cell anemia.
Sickle Cell Anemia is a group of disorders that cause red blood cells to become misshapen and break down. Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans (Ashley-Koch, Yang and Olney). Sickle Cell Anemia causes your red blood cells to be thin, stiff, and shaped like a sickle. But your red blood cells are supposed to be round and soft. A person that is diagnosed with sickle cell anemia, their blood cells start to become clogged, causing blood clots, which can cause a great amount of health issues including: infections, stroke, and acute chest syndrome. People get sickle cell anemia by inheriting a mutated gene from both of their parents. On the down side, there is not currently an effective cure for sickle cell anemia, there are several different therapeutic approaches to treating and attempting to cure the disease and help people who are affected with sickle cell anemia better manage their symptoms. There have also been several great scientists that dedicated a lot of research to help find a cure for sickle cell anemia.