Carter Bean Mr. Rudolph C103 1/30/16 Genetic Disease Paper My Genetic Disease is Sickle-Cell disease. It is located on the Chromosome 11 at position 15.5 on the short arm. To get this genetic disease, your mom and dad have to be a carrier of the disease. This is also a mutation P (point mutation), which means there was a deletion inside the gene. This disease makes your red blood cells not be a normal shape. The red blood cell looks like a sickle from a protein called hemoglobin that carries oxygen. This makes it harder for your red blood cells to go through the veins of your body, which could cause health problems like stroke and heart attacks. This disease can be prevented by many things like vaccination,
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.
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 or also widely known as Sickle Cell Anemia is a genetic mutation caused in red blood cells destroys its own cells within and reshaping the cell wall resembling crescent or sickle shape; getting its name of the sickle cell disease. These sickled shaped cells attempt to perform its normal function of circulating oxygenated and deoxygenated RBC and gets lodged in small vessels causing vaso-occlusion. Where vaso-occlusive take effect, rest of the body is not receiving oxygen becoming oxygen deprived results in acute and chronic pain and organ damage (Valerie Mann-Jiles, 2015). This disease a lifelong condition affecting not just the person carrying the disease but the whole family. Treating this disease
According to Centers for Disease Control and Prevention “Sickle cell Trait is people who inherit one sickle cell gene and one normal gene have sickle cell trait (SCT). People with SCT usually do not have any of the symptoms of sickle cell disease (SCD), but they can pass the trait on to their children.” (sickle cell trait)
Sickle cell disease is an inherited form of anemia. This means both parents must pass on the defective gene for a child to be affected. The gene is more common in families that come from Saudi Arabia, Africa, Mediterranean countries, India, the Caribbean islands, and North, South, and Central America of African descent.
Sickle-Cell Anemia is an inherited, chronic blood disease in which the body produces abnormally shaped red blood cells. When the blood cells become crescent/sickle shaped, they are unable to deliver adequate amounts of oxygen to other cells. Also, these unusual “sickle” cells block blood pathways to the limbs and organs, limiting the amount of blood flowing throughout the body. It causes pain, organ damage, and anemia (low blood count). Unfortunately, however, when sufferers are born with this disease, they live life knowing it is incurable.
Sickle cell disease is a hereditary blood disorder caused by an abnormal hemoglobin in the red blood cell. Hemoglobin is a type of protein that carries oxygen in the body. In order for someone to have sickle cell disease they would need to have been passed down from at each one of their parents, by inheriting a total of two hemoglobin genes. The fact that this is a hereditary disease means that it is not considered to be contagious. This disease comes in about six different forms, but the most severe of them all is sickle cell anemia. Sickle cell is an inherited disease that affects the red blood cells causing debilitating symptoms, however, with treatment people with this disease can quite possibly live an otherwise
Sickle cell anemia mainly affects people with African, Mediterranean, Middle Eastern, and Indian ancestry. A person with sickle cell anemia inherits two sickle cell genes, one from each parent. It cause the red blood cells to change and become crescent shaped. Normal red blood cells are disk shaped and move easy through the blood vessels. The primary problem is hemoglobin, it is a protein molecule in red blood cells that carries oxygen from the lungs to the body’s tissues and returns carbon dioxide from the tissues to the lungs. In sickle cell anemia, the hemoglobin is flawed. The cells become sickle shaped and can’t move as easily through blood vessels. Sickle cell anemia has one main cause, in order for sickle cell anemia to happen, a sickle
Sickle Cell Disease is a genetic disease caused by a SNP (Single Nucleotide Polymorphism). Which means it is caused by a single letter gene mutation. Through the advent of CRISPR/Cas9 the disease might be cured. It is a serious reality and will enter medical trials within a handful of years. Sickle Cell Disease is an inherited disease that predominantly affects people of African descent. Red Blood cells become rigid and sickle shaped, causing blockages and pain crises. In cases of Sickle Cell Disease the Beta-Globin are mutated causing faulty and deformed Hemoglobin proteins thus creating sickled and short-lived Red Blood Cells.
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 is a genetic disease. People who are affected have two copes of the mutant gene. Normally, if a patient is heterozygous for the sickle-cell gene, they do not display any symptoms of the disease. Sickle-cell anemia is characterized by a deformation of red blood cells that are elongated and resemble sickles. In sickle-cell disease, mutated hemoglobin binds together to form large masses, which give the red blood cells their sickle shape. The hemoglobin found in this disease is referred to as hemoglobin S (Hb S), as opposed to normal adult hemoglobin, hemoglobin A (Hb A).
Sickle cell disease (SCD) is calamitous defect of the red blood cells (RBC’s) resulting in an impairment if he circulatory system, damaging tissue, causing dangerous anemia, deadly infections, and infarctions (Redshaw, & Martin, 2013). SCD patients live two to three decades less than their healthy peers, affecting up to one-hundred-thousand American’s, with the vast majority of African descent, and a small fraction of Hispanic, Asian Indian, Middle Eastern and Southern European (Redshaw, & Martin, 2013). More than 90% of children diagnosed with SCD in The United States, will reach adulthood; consequently, the majority of SCD diagnosis occur during mandatory routine newborn health screenings (Redshaw, & Martin, 2013).
Sickle Cell Trait (SCT) and Sickle Cell Disease (SCD) can be a serious problem for some people, but at the same time, it can also be very beneficial to some people. Having SCT, means that you do not have the disease, but are a carrier for the trait. People who have SCT are usually unaffected and live normal lives. On the other hand, people who actually have SCD, can end up dying for having it, and are forced to live irregular, difficult lives.
Sickle cell disease is a genetic disorder blood disease. Instead of normal, round, red blood cells, the cells are sickle shaped causing blockage of capillaries. Sickle cell is inherited from both parents. For the child to have sickle cell disease both parents must have the sickle cell trait. (Mayo Clinic, 1) Sickle cell trait is a gene that can create sickle cell disease for their child if the other parent has the trait. Carriers of the trait typically live normal lives. Sickle cell trait cannot become sickle cell disease, but they can pass the trait on to their children or even have a child with the disease. (Sickle Cell Disease Symptoms, Causes, Treatments. 1) Only under extreme conditions like severe dehydration, high altitude, or very
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.