Essay on Cystic Fibrosis

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

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.

The disorders for Sickle Cell Anemia is mutation, autosomal recessive, and blood loss. The chromosomes traveled from one parent to another which mean it's a positive chance the child will have that disease. Also that

Sickle cell disease is a hereditary blood disorder most common in the African American community. Many people are carriers of the sickle cell trait, however in order for a person to develop sickle cell disease both parents must have passed on the trait to their child. Sickle cell disease causes a mutation in normal red blood cells resulting in decreased tissue perfusion and organ damage. This causes partial or complete replacement of normal hemoglobin with abnormal shaped sickled cells. An abnormal shaped sickled cell may become lodged to a blood vessel where other cells then bind to it and begin to form a clump. The blood vessels continually attach to each other and result in a blockage of small blood vessels eventually resulting in organ

The amount of people with cystic fibrosis is about a third of the people who have the sickle cell disease. There are over one hundred care centers for people with cystic fibrosis while there are only around ten for sickle cell disease patients. Older sickle cell patients have “limited access to medications” despite having many visits to the emergency room. Although racism is not the only factor of the “oversimplification” of sickle cell disease, it is clear that people put other genetic illnesses, such as cystic fibrosis, over sickle cell disease (Ellis 1-3).

Sickle cell anemia is a disease that is found in about seventy thousand to one-hundred thousand people in a year here in the United States, most commonly found in African-Americans. This disease occurs in the blood where the hemoglobin attaches itself to the oxygen in the lungs and then carried all throughout the body. When this occurs the red blood cell is changed to rigid and the shape turns to a “C” (A.K.A. Sickle) which is where the disease got its name. The C like cell may get stuck and block blood flow to vital organs which can cause a stroke, acute chest syndrome, organ damage, and other disabilities. Sickle cell is unfortunately an inherited disease which is either passed down by both parents or if one parents has the trait and the

From Cystic Fibrosis to Down’s Syndrome and Sickle Cell Anemia, there are tens of thousands of genetic disorders, with many more to be discovered. The fascinating thing about genetic disorders is that when we were born it’s a gamble whether or not we would come into this world with a genetic disorder. Although genetic disorders are quite rare and we take being born without one as granted, there are many out there that live with these disorders everyday. My research paper will focus on the specificalities of a few genetic disorders, the disorders presented in my paper are Marfan Syndrome, Hutchinson-Gilford Progeria, Cystic Fibrosis, and Sickle Cell Anemia. My paper will encompass important specifics

Cystic fibrosis often referred as CF is a systemic inherited disease that is caused by the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) and affects the functioning of a persons breathing organs (Knowles, Durie, 2000, pg. 439). Families and child life specialists play an important part in increase the life span of children who have CF. The Child Life Council (2006) recognizes that there is a new trial has arisen with children who are chronically ill and this is making the transition from leaving the hospital and also moving on to the adult health care system (pg. 1760). This is where it is extremely important for the parents to be educated and Child Life Specialist play the most important role of that child’s

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.

Cystic Fibrosis (CF) is a disease that causes problems within the lungs and digestive systems (pancreas, livers, and intestines). It occurs due to the abnormal transport of chloride and sodium across an epithelium, leading to excessive secretion of thick mucus in these two major areas of the body. This makes breathing difficult as the thick, sticky mucus clogs the airway, and it can also result in sinus infections, poor growth, infertility, and reduced life expectancy. However, these can sometimes be treated with antibiotics and other medication, like medicated inhalers.’ It is an autosomal recessive genetic disorder and is caused by one of many different mutations in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR)’ . Because CF is a genetic disorder it is able to be inherited therefore can undergo human manipulations such as Selective Breeding and Gene Therapy.

Para 4. Cystic fibrosis has a very large toll on the patients’ everyday life. From regular hospital visits to getting a sudden blockage. Most of the time they cannot take part in regular everyday activities because of many struggles, such as a persistent cough, difficulty breathing, tiredness frequent visits to the toilet and frequent muscle cramps. Due to these symptoms majority of CF patients struggle to maintain a normal lifestyle like their peers who are not diagnosed. The parts of the body affected are the the lungs, the digestive system (pancreas & liver) and the reproductive system. In respiratory system the thick mucus clogs the tight air passages and also traps a lot of bacteria. Repeated infections can lead to severe and irreversible

Sickle Cell Anemia Disease is an inherited disease that turns healthy red blood cells (donut shape) into abnormal sickle shaped red cells which affects people's hemoglobin (a red protein responsible for transporting oxygen in the blood) (Naoum). This disease gets its name from the shape of red blood cells under low oxygen condensation which becomes sickle shaped. These sickle shaped cells get stuck in small blood vessels which causes people with this disease to have oxygen blockage (fudge foundation). People inherit this disease from their parents, if both parents have a trait of sickle cell anemia (people who inherit one sickle cell gene and one normal gene, they have a 25 percent chance of having an unaffected

Sickle cell disease is a genetic disease that caused by abnormalities in the production of hemoglobin of red blood cells, characterized by its sickle-like shape. While the main function of hemoglobin in red blood cells is to carry oxygen to different parts of the body, these sickle cells are unable to perform this task adequately. The sickle shape of these red blood cells contributes to lower blood flow through vessels as they begin to build up and block passage through smaller blood vessels (“Facts About Sickle”). Although there are several types of sickle cell diseases, the most severe and common form is sickle cell anemia. Sickle cell anemia is a form of this disease where a child inherits one sickle cell gene from each parent and therefore

“Cystic fibrosis (or mucoviscidosis, as it is sometimes called) is caused by a defective recessive gene” (Clayman 328). “Most seriously, the glands in the lining of the bronchial tubes produce excessive amounts of thick mucus, which predisposes the person to chronic lung infections” (Clayman 328). The symptoms of the disease can be severe, depending on the individual. “The first sign of cystic fibrosis in an infant may be intestinal blockage. Some babies with cystic fibrosis may have bulky stools, poor weight gain, or slow growth, all the result of low digestive enzymes in the intestines” (Jerrold and Lipsky 366). In most cases, young children will have bowel movements producing “pale, greasy-looking, foul-smelling feces” (Clayman 328). “The child also suffers from persistent chest infections, causing consistent coughing and breathlessness. Pneumonia, bronchiectasis, and bronchitis commonly develop and the lungs become damaged” (Clayman 328). People who are diagnosed with cystic fibrosis become dehydrated often because they tend to loose so much salt in their sweat. “Often parents of children with cystic fibrosis report that their infants taste salty when they kiss them” (Jerrold and Lipsky 431). Cystic fibrosis leads to chronic lung infections that will destroy the lung tissue over time, which leads to death. Cystic fibrosis is incurable; however, there are several treatment methods that can relieve the

Sickle Cell is a genetic disorder that affects red blood cells, causing them to become sickle, or misshapen. This makes the hemoglobin in the red blood cell not able to move oxygen throughout the body causing severe pain. Sickle Cell is genetic due to a person inheriting affected genes from their parents, and both parents have to be carriers because the disorder is homozygous recessive. With two carrier parents, the child has a twenty five percent chance of being unaffected, fifty percent chance of being a carrier, and a twenty five percent chance of having Sickle Cell.