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Sickle Cell Disease Research Paper

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A Mutation is a change in the DNA structure or sequence of a gene. Mutations are major cause of genetic diversity that can be sometimes detrimental. Mutation of a gene can result in the production of an altered protein that functions poorly or in some cases no longer encodes a functional protein, such mutations can cause genetic diseases. This paper will talk about three examples of diseases involving mutations. Before entering into diseases let’s take a look at what causes mutations and different type of mutations. Sometimes mutations can occur through spontaneous events such as errors during DNA replication. DNA polymerase can insert the wrong nucleotide into a newly synthesized strand of DNA. Polymerase might insert a T where a C belongs. …show more content…

Sickle cell disease was the first genetic disease discovered1. It happens on chromosome 11. Its cause was pinpointed to a particular mutation. Sickle cell disease described a group of inherited red blood cell disorders. People who are diagnosed usually have abnormal hemoglobin in their red blood cells. Hemoglobin is a protein in red cells that carries oxygen across the body. A point mutation in the β-globin gene changes the genetic code. A person that has two defective copies of hemoglobin gene usually suffers from the effects of sickle cell disease. Patients with the disease suffer from poor oxygen delivery to tissue; this results in joint pain and other body pains. Sickle cell disease is inherited which means this disease is passed by genes from parents to child. It is not contagious. There is different forms of sickle cell disease some are hemoglobin SS, hemoglobin SC, hemoglobin SD, hemoglobin SE but hemoglobin SC and hemoglobin Sβ thalassemia are two common forms. Sickle cell disease is most common among people whose ancestors come from Africa, Greece, Turkey, Italy, India and parts of Caribbean2. Sickle cell disease is a life long illness, but with improving technology and science diagnosis- it has made its improvements. As of right now the only cure for sickle cell disease is hematopoietic stem cell transplantation also known as HSCT. However, a compatible donor is required for a good chance …show more content…

It is located on human chromosome 7. Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that damages many of the body’s organs. It causes lung infections and problems with pancreatic, digestive and pulmonary functions. Mucus is slippery substance which usually protects the lining of airways, digestive system, reproductive system and other organs and tissues. People who suffer from cystic fibrosis, their body produces mucus that is thicker and stickier than normal people. This abnormal mucus may fill up airways or lungs which can cause trouble with breathing and can also cause bacterial infection in the lungs. This can cause coughing, inflammation, and overtime mucus builds and stays for long time resulting in permanent lung damage, including formation of scar tissue known as fibrosis and cysts in the lungs. People with cystic fibrosis whose cells produce mucus, sweat and digestive juices are affected. Cystic fibrosis patients also have digestive problems. This occurs as a result from buildup from thick and sticky mucus in the pancreas. Pancreas produces insulin which body needs to use sugar, also it makes enzymes which help in digestion of food. People with cystic fibrosis mucus usually blocks ducts of pancreas which results in reduction of insulin and enzymes. If body doesn’t produce enzymes or enough of it, then it can lead to digestion problem such as diarrhea.

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