Sickle Cell Disease
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.
The overall incidence of SCD is eight out of 100,000 people. However, it is much more widespread in some people. "One out of 600 African Americans and one out of 1,000 to 1, 400 Hispanic Americans" are affected. (2). However, there are other populations who are especially affected, as well. These include, but are not
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In order to get Sickle Cell Anemia, you must have the Sickle Cell Trait. This is defined as "A person who carries one sickle hemoglobin producing gene inherited from their parents and one normal hemoglobin gene." (3) People who only have one copy of the mutation have the trait. "It is estimated that 1 in 12 African Americans has sickle cell trait." (3) Having the trait will NOT cause SCD. However, having the gene does allow you to pass the mutation on to your children. In fact, "A child conceived by two people with sickle cell trait has one chance in two of also having sickle cell trait, one chance in four of having sickle cell anemia."(3)
Now that the disease is more clearly defined, we must ask, why did this illness come about? This is one of the most interesting facts about Sickle Cell. Since the trait originated in countries that were ravaged by malaria, it could be said that this trait evolved to fight the deadly mosquito-spread disease. "People with sickle trait were more likely to survive malaria outbreaks in Africa than those with normal hemoglobin, it is believed that genetically aberrant hemoglobin evolved as a protection against malaria."(2) It has also been said that, "People with a single copy of a particular genetic mutation [sickle cell trait] have a survival advantage. One copy of the mutation confers a benefit." (3) Its quite interesting to find that original purpose of this gene was
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 very serious disorder and people suffer from it every day. It is a genetic disorder that causes the hemoglobin in the red blood cell to distort and form into a sickle like shape. The name comes from the shape of the blood cell after it is mutated. A person who has sickle cell anemia got it from inheriting from the parents. It is the most common inherited disorder in the United States. It is also has four other names this disorder can go by HbS, Hemoglobin S Disease, SCD, and Sickle Cell .(https://ghr.nlm.nih.gov)the blood cell is formed wrong turning it into a sickle or crescent shape. Sickle cell is only a disorder. It can also be treated a lot of different ways.
People with sickle cell anemia have inherited two sickle cell genes, one from each parent. A child who has inherited the sickle cell gene from only one parent will not develop the disease, but will have sickle cell trait. People who have sickle cell trait don't have sickle cell anemia or symptoms of the disease, but they can pass the sickle cell gene to their own children.
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 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,
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
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.
It has always been assumed that genetics and lifestyle play a major role in the presence of health disparities and health care issue that affects African-Americans. This paper provides a historical background to a key disease more prevalent in the African American community, Sickle Cell Anemia, the history behind the disease, genetic mechanisms that influences once probability of inheritance and in-depth treatment on how to manage, prevent and sustain a healthy lifestyle when dealing with sickle cell anemia. Sickle cell anemia is a hereditary disease that alters important aspects of the body physiologically and can be inherited via genes. Sickle cell disease (SCD) was first identified in 1910 and has existed in the continent of Africa for five
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.
People with sickle-cell anemia have to take penicillin, get extra vaccines, and get many tests done. Like most people they need to also exercise every day, have a nourishing diet, and get enough sleep every night. Sickle-cell anemia is most common in African Americans, 1 out of 365 African American children are born with two mutated hemoglobin genes or sickle-cell anemia. Sickle-cell anemia is a negative mutation of the hemoglobin gene because it prevents the oxygen from the lungs to the places its needed through the
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.
This disease is a genetic disease and it is hereditary. It is inherited as an autosomal recessive disease. This means that in order to get the gene you must receive a recessive trait from your mother and your father. The parents could both be heterozygous for the trait and therefore not have the disease, but instead they would both be a carrier. There are only a few ways that the parents could possibly pass the trait. One possibility of having a child with sickle-cell disease is if both parents are heterozygous and they both pass on their recessive allele, (25% chance for offspring to have sickle-cell disease). Another possibility
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.
The symptoms of Sickle Cell Anemia were observed for over five thousand years in Africa. The first reported case of sickle cell anemia however was in 1846, when an autopsy of a runaway slave showed an absence of a spleen. However, it was first discovered by Ernest Irons, an intern of Dr James B Herrick in the United States in 1910. He viewed an anemic patient’s blood under the microscope and observed “elongated and sickle shaped” red blood cells. However, cases of these sickle shaped red blood cells were of African patients only. In 1922, the disease was named “sickle cell anemia” by Vernon Mason. Hahn and Gillespie discovered in 1927 that red blood cells are made into sickle shaped cells by the change in their molecular structure in the absence of oxygen. In 1948, Watson suggested that infants did not show symptoms of sickle cell anemia because of the presence of fetal hemoglobin, HbF. In 1949, it was shown that the disease was inherited and that only people homozygous for the gene got the disease. In 1951, Linus Pauling and his colleagues showed that sickle cell anemia was caused by abnormality in hemoglobin and had a different chemical structure than normal hemoglobin molecules. They proved the change in structure of sickled cells through gel electrophoresis of hemoglobin from normal blood cells and sickled blood cells. They published the paper “Sickle Cell Anemia, a molecular disease” that spread awareness of the disease. The actual amino acid change however was
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.