Sickle Cell Disease Research Papers

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.

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,

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 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

Approximately 100,000 people suffer from Sickle Cell Anemia everyday and about 2 million people have the Sickle Cell trait in the United States alone. Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans (Pruthi 2018). The disease is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans (Pruthi 2018). Sickle cell anemia is an inherited form of anemia, a condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body normally, your red blood cells are flexible and round, moving easily through your blood vessels. In sickle cell anemia, the red blood cells become

Sickle cell anemia affects many people around the World in areas of Africa, the Middle East and Spanish speaking countries to list a few.

Sickle Cell Anemia is a fatal hereditary illness with a range of signs and symptoms. A person can go years without having symptoms while some don’t survive childhood. The life span of a person with Sickle Cell Anemia is 50 years above, however female counterparts live longer than the men. It is common in African and Black individuals. The only cure for Sickle Cell Anemia is a bone marrow transplant, which reverses the illness. Hydroxycarbamide can also help lessen complications, but is not a cure. It is an illness that results in early deaths, that’s why it is important to get treatment as soon as

While people are trying to find a breakthrough cure for diseases such as Cancer, Sickle Cell patients feel that they are left in the dark of the public’s eye. Each day thousands of people are being faced with the shocking truth of having to live a very hard, tiresome, and very painful life. According to researchers about one in four hundred African American is affected with Sickle Cell. Therefore it is felt that there should be a greater effort in trying to find a cure for this disease.

Sickle cell anaemia has been proven to provide both those afflicted with the disorder and carriers with malarial resistance. In large populations of Africa, sickle cell anaemia is heavily prevalent due to such a high mortality rate of malaria. This is because the sickle cell trait will not be affected by the malaria disease, hence; those unaffected will survive to reproduce and pass down the gene. Statistics obtained from sicklecelldisease.org propose

Sickle Cell Anemia is a hereditary disease that has a gene that causes red bone marrow in the body to make sickled shapes, when this happens; it causes the red blood cells to die faster. This is what causes Hemolytic Anemia. Older children and adults with sickle cell disease may have very few complications, or have patterns of ongoing problems that ultimately shorten their lives. The most serious and common problems with sickle cell disease are organ failure, fatigue and pain. There are many opportunities and alternatives for treatment and symptom management that a sickle cell patient can consider today.

The genetic disorder I will be discussing is Sickle Cell Disease. Sickle Cell Disease is an inherited blood disorder. Children who have this disease have two defective hemoglobin S genes, which they receive one from each parent. This gene occurs in chromosome 11. The sickle cell gene is passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for a child to be affected. If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait.

Sickle cell anemia (SCA) is one of the most prevalent recessive autosomal diseases in the world, affecting approximately 300,000 newborns each year, with the number predicted to rise to 400,000 by the year 2050. It is a disease of the β-globin gene (HBB), whereby a single nucleotide polymorphism (SNP) causes the β6 glutamic acid (Glu) to mutate into valine (Val). The resulting Glu6Val changes the conformation of the red blood cell (RBC) because Val is hydrophobic and Glu is acidic, polar, and has a negative charge. This SNP causes the hemoglobin (Hb) to alter its tertiary structure, forming Hb S which then creates long polymers that alter the RBC’s shape. Many forms of treatment for SCA are being researched, with some of the most promising results coming from gene therapy. Although gene therapy does provide a promising outlook for many diseases, the technique is still under

The mutation of sickle cells reflects on a change in the amino acids protein which transports oxygen into haemoglobin. This is the protein which gives red blood cells its colour and consist of two subunits the first being the alpha subunit which is common in individual’s with sickle cell disease. The second subunit is beta this has an amino acid at position 6 instead of the glutamic acid being present. If the beta globin gene is sickle and the other gene is normal this individual is a carrier of sickle cell disease, this condition is known as sickle cell trait, it’s a rare condition. If both the beta globin genes are sickle then the individual has sickle cell disease, those with sickle cell trait cannot develop sickle cell disease. This shift is the basis of all the problems that occur in people with sickle cell disease. Some types of haemoglobin molecules such as fetal haemoglobin which is found before birth block the interactions between haemoglobin s and deoxygenated molecules. This haemoglobin disappears within the first year after birth. One approach to treating sickle cell disease is to rekindle production of fetal haemoglobin. The drug, hydroxyurea induces fetal haemoglobin production in some patients with sickle cell disease and improves the clinical condition of some people (Okam,

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 disorders are a group of inherited disorders where adult haemoglobin (HbA) is replaced by sickle haemoglobin (HbS) due to the substitution of glutamic acid by valine at the position 6 of the beta globin chains3. In addition, these disorders can be of various conditions, however, we will mostly on the two most known conditions which are sickle cell anaemia (HbSS) and sickle cell trait (HbAS). The other conditions are those where sickle cell disorders is associated with other disorders such as beta thalassaemia or haemoglobin C (HbSC). Sickle cell anaemia refers to the form of sickle cell disorders where the patient receives a copy of the mutated gene from each of his parents (homozygosity) whereas in sickle cell trait, the individual only gets one copy of the mutated gene from one his parents