Discovering sickle cell anemia
The topic that I am learning about is Sickle Cell Anemia, a hereditary disease which affects red blood cells. Throughout this research
paper, I will discuss what exactly it is, how it is caused, any known treatments or cures, and many other facts that are important in this disease.
Sickle Cell Anemia is a health problem throughout the world. More than 250,000 babies are born worldwide with this inherited blood cell disorder (http://www. medaccess. com/h_child/sickle/sca_01.htm). The disorder causes red blood cells to extend into a sickle shape which clogs the arteries. Persistant pain and life-threatening infections result from the illness. About one in 400 black newborns in the U. S. have sickle cell anemia. And one in 12 black Americans carry the sickle cell trait (http://www. medaccess. com/h_child/sickle/sca_01.htm). This leaves a good chance that the parent with the trait can pass the defect onto offspring although their own health is not harmed.
The cause of sickle cell anemia is rather simple but it leaves a life threatening affect. Anyone who carries the inherited trait for sickle cell anemia, but doesn't have the disorder, is actually protected from a severe form of malaria. This helped the children in countries where malaria was a problem, to be able to survive against that disease. What happened to those children? They grew up, had their own children and ended up passing the gene for sickle cell anemia onto their offspring.
This disease is a hereditary blood disorder that affects the red blood cell. Red blood cells contain a protein called hemoglobin which transports oxygen from your lungs to every part of your body. Hemoglobin's oxygen carrying ability is essential for living but if there is a structural defect on the pigmented molecule, it can be fatal. When a normal red blood cell distributes its
Oxygen, it has a disc shape. But when an affected red blood cell containing sickle cell hemoglobin releases its oxygen, the image of the cell changes from a disc shape to a sickled shape. In hemoglobin, there are four chains of amino acids. Two are know as alpha chains, and two are called beta chains. In a normal hemoglobin, the amino acid in the sixth position on the beta chain is known as glutamic acid (refer to diagram 1.1 on page 6). During sickle cell anemia, the glutamic acid is pushed out of its place and replaced with another amino acid called vialine(refer to diagram 1.2 on page 6). This simple substitution has devastating consequences.
Hemoglobin molecules that contain the beta chain defect stick to one another instead of staying separate after releasing oxygen. This forms long, rigid rods inside the red blood cells. The rods cause the normally smooth and disc shaped blood cells to take on a sickle shape. When this happens, the blood cells lose essential ability to deform and squeeze through small blood vessels and arteries. The sickle cells becomes stiff and sticky which clog vessels, depriving tissue from receiving a sufficient blood supply. This change makes the hemoglobin less soluble in water. When a person is deprived of oxygen, the hemoglobin molecules join together and form fibers. The fibers cause the blood cells to change shape.
Sickle hemoglobin and normal hemoglobin carry the same amount of oxygen but there are two major differences between the
two kinds of cells. The normal hemoglobin is found in only disc shaped red blood cells that are soft, which permits them to easily flow through small blood vessels. Diseased red blood cells are sickle shaped and are very hard which tend to get stuck in small blood vessels and stop the flow of blood.
The other difference between the two cells is their longevity. Sickle cells do not live as long as
Normal cells. Normal healthy cells can survive for about 120 days, while the more fragile sickle cells can survive for about 60 days or even less. The body cannot make new red blood cells as fast as it loses sickled blood cells. A sickle cell patient has fewer red blood cells and less hemoglobin than normal red blood cells. This results in less oxygen being convenient for use by the cells of the body.
Anyone whose parent has the gene for sickle cell anemia have the chance of at least having sickle cell trait. In order for a child to have the disease, both parents must have the sickle cell gene(refer to diagrams 2.1 and 2.2 on page 6). The disease affects mostly African Americans in Africa, South America, Latin America, the West Indies, Greece, Spain, Italy, and Turkey.
When the blockage of sickled red blood occurs, it can take place in any organ or joint of the body wherever a blood clot develops. The frequency and amount of pain varies widely depending on the person. In some people, painful episodes occur once a year but for other patients, they can have as many as 15 to 20 episodes annually. These excruciating, disruptive events can be so brutal that the patient must go into the hospital for five to seven days to obtain intravenous fluids and narcotic pain killers. The pain can only be controlled, it cannot be stopped or you cant even identify when it is likely to happen again.
Sickle cell clots are life threatening, depending on where it occurs. One of the most severe places for a clot to occur in is the brain. It could lead to a stroke which could turn into paralysis or even worse, death. Sometimes a blood transfusion is required every three to four weeks to avoid recurrence of clots in the brain.
When blood capillaries are clogged, it can lead to many types of problems, depending upon
Where the blockage occurs. The outcome of the blockages may lead to problems such as kidney infections, death and decay of tissues, intense pain in chest, arms and legs, disease of the retina of the eye, slow healing sores or ulcers, and even gallstones. When the hemoglobin is low, it is manifested by fatigue and weakness.
Currently, there is no cure for Sickle Cell Anemia. But the doctors do offer a treatment that helps control this disease. Pain medication, antibiotics, rest and high fluid intakes are all treatments for aspects of sickle cell anemia. There are also experimental therapies that are available to some patients. The drug hydroxyurea is a treatment that reduced 50% the frequency of painful episodes and hospital visits. Preventive administration of penicillin to affected children by the age of four months greatly decreases mortality from infections.
While researching this topic and studying about the disease, I have learned many new details about it. I realized that even the slightest change in the sequence of amino acids can lead to very harmful effects. In this disease, only one amino acid was substituted and still the illness is very harsh. I also learned how exactly the cells deform and why they go into a sickle shape. It was very interesting to learn that the disease mostly effects African Americans. I also learned that when the sickles get clogged in an artery, it results in a very painful attack on the person and may cause them to have an episode. When episodes occur, the patient may have to go into a hospital for pain killers. The disease also can lead to ulcers, strokes, paralysis, decay of tissues, and many other problems throughout the persons entire life. Sickle Cell Anemia is a very serious disease that effects a person and there way of life. It doesn't have a known cure yet but many treatments and therapy are available. If a perso
N has this disease, it is life-threatening and painful attacks can
Occur at any time, anywhere. It is important to know the causes and reasons for the disease so that you can relate to what a person with Sickle Cell Anemia is going through.
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Discovering Sicke Cell AnemiaThe topic that I am learning about is Sickle Cell Anemia, a hereditarydisease which affects red blood cells. Throughout this research paper, I willdiscuss what exactly it is, how it is caused, any known treatments or cures, andmany other facts that Health & Beauty – Various Genetic Disorders Various Genetic Disorders Alterations in human chromosomes or the deletion of an important gene product are often due to a mutation, which can spring an abundant strand of genetic mutations and improper coding. Mutations can spring from deletion, duplication or inversion of a chromosome. This improper deletion is the factor that leads to complications and The Expression of a Gene The process of Protein Synthesis involves many parts of the cell. Unlike other similar productions, this process is very complex and precise and therefore must be done in proper sequence to work effectively. The slightest error during this process could cause the action to experience difficulty or even fail. For example, in the production of