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.
Can Sickle Cell Anaemia be Cured Effectively in Adults? 1.1 Identification of a Biological Issue Sickle cell anaemia is a disorder affecting the red blood cells and up to 100,000 people are estimated to have the disease in the USA (Centre for Disease Control). Due to a genetic mutation in the gene
What is sickle cell Sickle cell anemia is an inherited disease causing red blood cells to malfunction. It is a disorder the affects hemoglobin the protein found in red blood cells. People with this disease genetically inherit this untypical hemoglobin. This means that it cannot be transmitted from one person to another like the flu virus. These people have what its called hemoglobin (s). What this does is that instead of the red blood cell being circle-shaped it would appear to be a half moon shaped cell. It is necessary for the cells to be round so that they would be able to pass though small and large blood vessels.
Introduction Sickle cell disease (SCD) is an autosomal recessive disease that is common in African Americans. This disease arises from a single base-pair substitution of thymine for adenine and this makes valine in its place of glutamine in the sixth position of the Beta-globin molecule. When this swap occurs in a homozygous state and this is the sickle cell disease. Clinical signs result from polymerization of the abnormal haemoglobin and the sickling of cells. (Thompson, 2010)
Sickle Cell Anemia For long time many people have traditions habits that help to spread sickle cell anemia in community. It is common in the east of Saudi Arabia. Because in my community some people get married of relatives, that makes disease in their children if parents have the disease. Sickle cell anemia is genetic disease, which is characterized by abnormally in the hemoglobin molecule that carries oxygen in red blood cells. It is associated with sickle cell disease with a number of acute and chronic health problems, such as acute infections, attacks of severe pain, and stroke. There is an increased risk of death. The effects of sickle cell anemia are high body temperature, bacterial infections, and lack of oxygen in the blood.
Sickle cell disease has the ability to affect millions of people globally, but is most prevalent in countries that are malaria rife (Cdc.gov, 2015). Despite the disease having the capacity to destroy lives, it also has the ability to act as a form of defence against the effects of malaria. The disease is directly caused by a single point mutation on the gene sequence that codes for beta-globin (Midence and Elander, 1994). This is brought about by the substitution of an Adenine base for a Tyrosine base, thus coding for the mutated form of the beta-globin gene, which will result in the formation of sickle cells (Hb S) (Serjeant and Serjeant, 2001). This mutation only affects adult hemoglobin, as foetal hemoglobin contains gamma-globin instead
On a more specific approach, “Sickle cell disease (SCD) and its variants are genetic disorders resulting from the presence of a mutated form of hemoglobin, hemoglobin S (HbS). HbS arises from a mutation substituting thymine for adenine in the sixth codon of the beta-chain gene, GAG to GTG. This causes coding of valine instead of glutamate in position 6 of the Hb beta chain.” (Sickle Cell Anemia: Practice Essentials, Background, Genetics. n.d.)
Gregor Mendel was the man that first discovered how genetics works even before anyone knew that genes existed by studying pea plants. Through his discovery he came up with the three principles of inheritance. Thanks to Dr. Mendel we now know that sickle cell is a codominant trait. People who are heterozygous have both normal blood cells and sickle cell. Since sickle cell is a recessive trait the people who are heterozygous are considered normal(nature.com,
In the annals of medicinal history, 1910 is viewed as the date of sickle cell disease. The disorder, Sickle Cell Disease, had been existent in Africa for at least five thousand years and had been known by numerous names in numerous tribal languages. It is called discovery in 1910 in the United States but not in Africa. A young man named Walter Clement Noel from the island of Grenada went to Dr. James B. Herrick and explained what he felt of pain and symptoms of anemia, but the Dr. Herrick is a cardiologist, which is a specialist in heart, so he took him to Dr. Ernest Irons. Dr. Ernest Irons examined Noel's blood under the microscope and saw the changed in shape of red blood cell. When Herrick saw this in the diagram, he became interested because he saw that this may be a new disease. Thus, Dr. Herrick advertised what he found in Noel's blood in one of the medical journals. After that, many articles about sickle cell disease appeared. For example, two articles had appeared in 1949, and this disease became known more than before.
In the presentation of these two haemoglobinopathies, we will firstly start by presenting the different conditions of sickle cell disorders and finish by doing the same for alpha and beta thalassaemias. Sickle cell disorders are a group of inherited disorders where adult haemoglobin (HbA) is replaced by sickle haemoglobin (HbS) due
Sickle-Cell Disease A group of disorders that have an impact on hemoglobin is called sickle-cell disease. This disease can be deadly and needs to be discussed. During the lecture about chapter five, the
Sickle cell anemia (SCA), an autosomal recessive disease, affects about 250,000 people globally every year. 1 Diagnostic tests are fairly simple because the molecular basis of the disease is noncomplex; the disease is caused by a single amino acid substitution. This substitution changes the conformation of hemoglobin resulting in a “sickled” product. This sickled product is “stickier” than the normal red blood cell creating the diseased state. Currently, treatment options are mostly limited to improving symptoms, but there are potential treatments under study that could help at the molecular basis of the disease.
Sickle Cell Anemia Patricia A. Walton HCS 331 Psychosocial Impact of Chronic Illness on Person and Environment Professor Alayna Defalco June 14, 2015 “Sickle cell disease is an autosomal recessive disorder of blood cells caused by a genetic defect of the beta-globin chain of adult hemoglobin (HbA). The mutant forms of hemoglobin are sickle hemoglobin (HbS) because HbS polymerizes in deoxygenated blood, causing red blood cells to form a sickle shape. Normal hemoglobin has a biconcave disc shape that allows for maximum transportation of oxygen” (George, Mitchell, Mitchell, Eason, Fuh, & Embse, 2014).
When I was in the eleventh grade, I watched a documentary on a person I would never forget. It was the life story of the famous chemist Dr. Percy Julian, and it was at that moment that I found my love for chemistry. Not only because of the work that Dr. Julian accomplished, but because, for the first time with my own eyes, I saw a man and his love of science breaking down barriers.
Sickle cell anemia was first described by J. Herrick in 1910 (1) and he found that the hemoglobin plays important role in transporting oxygen to red blood cell and transporting low oxygen to red blood cell results in the sickle shaped red blood cells. Since sickle shaped red