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. Symptoms Include anemia, pain crises, and stunted growth. Anemia is caused because sickled cells die much more frequently, …show more content…
The shortage of healthy blood cells make it difficult to move essential nutrients as well as oxygen throughout the body. This delays growth and puberty in children afflicted with Sickle Cell Disease. The result is stunted growth in adolescents. It is also possible for the hands and feet of someone with Sickle Cell Disease to become enlarged and painful. This is caused by sickle shaped blood cell blocking blood flow to the hands and feet. Another symptom of Sickle Cell Disease is an increased amount of infections. The explanation of this is that Sickle Cell Disease is very hard on one’s spleen. The Spleen is a organ that cleans the body’s blood of unwanted bacteria and anything else not wanted. But because sickled cells are transported there on mass, they often get stuck in the Spleen. The Spleen then becomes enlarged and painful. This is called a splenic sequestration. This usually can be remedied by a blood but it is also common to remove the Spleen …show more content…
Sickle Cell Trait hereditary pattern is autosomal recessive. Meaning two copies of Sickle Cell Trait must be present for the disease to be expressed. People who inherited a single copy of Sickle Cell Trait express no disease and live normal lives. Both copies of Sickle Cell Trait cause a SNP mutation in the Hemoglobin Beta Gene, located on chromosome 11q15. A single thymine molecule gets replaced by a adenine molecule. This single molecule mutation causes the person to produce mutated Beta-Globin. Beta-Globin is an essential piece of of the protein Hemoglobin, a single Hemoglobin protein is comprised of two Beta-Globins and two Alpha
Sickle cell anemia occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape. Instead of being flexible and round, these cells are more rigid and curved in the shape of the farm tool known as a sickle - that's where the disease gets its name. The shape
Sickle Cell Disease is an autosomal recessive genetic disease that occurs due to a mutation in the β-globin gene of hemoglobin. Autosomal meaning that it is not linked to a sex chromosome, so either parent can pass on the gene to their child. This mutation is a result of a single substitution of amino acids, Glutamic for Valine at position 6 of a β globin chain. The presence of this mutation causes
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.
In this article, sickle cell anemia is defined as a hereditary disease that destroys red blood cells by causing them take on an elongated and rigid "sickle" shape. In addition, a different type of hemoglobin called Hemoglobin S, is the protein in red blood cells that carry oxygen throughout the body. This protein starts to wrap around other red blood cells when oxygen is lacking to form a helical shape. Once this happens the cells cluster together and elongate and the cells start to "sickle". A person who has sickle cell anemia can only get it if both of their parents carry the sickle cell trait, if only one parent has the trait then there children are at risk for having the trait.
Complications of sickle cell anemia are pain crisis, infection, acute chest syndrome, splenic sequestration, vision loss, leg ulcers, stroke, deep vein thrombosis and pulmonary embolism. Pain crisis is a feeling of pain that can happen all of the sudden with mild to severe intensity and last for a period of time (“Facts About Sickle Cell Disease,” 2016). Serious bacterial infections are potential life threatening due to the damage to the spleen in some people who have sickle cell anemia (https://www.nhlbi.nih.gov/health/health-topics/topics/sca/signs). Acute chest syndrome can be life threatening and symptoms included chest pain, coughing, difficulty breathing, and fever. Splenic sequestration is can be life threatening
The disease is caused by a mutated version of the gene that help makes hemoglobin. Hemoglobin is the protein that carries oxygen in red blood cells. Sickle cell is a disorder in the blood caused by abnormal hemoglobin proteins. The abnormal hemoglobin protein caused sickle cell shaped red blood cells. The sickle cell red blood cells are crescent shapes and can clog up very easily in blood canals. In the diagram to the right it shows how a mutation causes a change in the amino acid.
Sickle cell is a blood disease. People with sickle cell anemia have crescent moon shaped blood cells that are hard and sticky. When the Sickle cells move through blood tubes, they can clog blood flow and break apart. This can cause main, damage, and a low blood count. The symptoms of the disease are not life threatening, however are not enjoyable. Sickle cell anemia can cause you to experience dizziness, headaches, and shortness of breath. Your skin may also turn more yellow or pale than it usually is. Sickle cell is an inherited disease. It is an unpreventable disease that you are born with. If you have a sickle cell gene, you do not have sickle cell, however your children have a 25% chance of having sickle cell anemia. This blood disorder can cause pain and discomfort but it is unlikely that your life will be in danger if you have the disease.
Sickle cell anemia (SCA) is an autosomal recessive genetic disorder. This missense mutation is characterized by mutant beta globin subunits that tend to stick together (Cummings, 2014). As a result, abnormally shaped red blood cells are produced by this disorder. The erythrocytes are sickle or crescent shaped. Sickling occurs under hypoxic conditions, in which there is insufficient supply of oxygen delivered throughout the body (Sun & Xia, 2013). In order to inherit this monogenic disease, one copy of the sickle globin gene from each parent must be passed on to the offspring (Ashley-Koch,
The probability of inheriting a disease is not random. There are several factors that determine the chances on inheriting a disease such as race, gender, genetics, etc. A person of Caucasian decent is more likely to develop cystic fibrosis, an Asian person has a higher chance of inheriting Kawasaki disease and there is a very high rate of Sickle Cell Anemia among people of African lineage. Sickle Cell disease is inherited and it affects the anatomy of the red blood cells, resulting in a sickle shape which then affects the functions of red blood cells causing a blood disorder. Sickle Cell is a recessive disease and persons affected have both copies of the hemoglobin S gene. This genetic defect causes red blood cells to become sickle-shaped (cresent shape). The abnormal shape severely impede the ability of red blood cells to pass through small blood vessels. This impediment caused by the sickle-shaped red blood cells decreases the flow of blood to parts of the body. This reduced blood flow to tissues causes hypoxia and subsequently leads to tissue damage. This alteration in the function of red blood cells is what leads to the complications of sickle cell disease. There are various types of sickle cell disease. The most common types of sickle cell disease are Sickle Cell Anemia (SS), Sickle-Hemoglobin C Disease (SC), Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia. Often conflated with sickle cell disease is "Sickle Cell Trait". Sickle cell trait means that a
The condition creates when Sickle-molded red platelets hinder move through minor vessels to the midsection, mid-region, joints, and once in a while bones, bringing on great torment and distress. Torment may change in force and can keep going for a couple of hours to a couple of weeks. Some individuals encounter just a couple of scenes of torment. Others encounter twelve or more emergencies a year. In the event that an emergency is serious enough, it may oblige hospitalization. A significant muddling of Sickle cell frailty is oxygen hardship in blood and organs.
Sickle Cell Disease is a genetic disease. If you have the disease, you have a lower life expectancy while you are also given a tremendous amount of pain to endure. The disease is inherited and it also causes a mutated hemoglobin. When you have this disease, instead of your red blood cells being circular like a moon it is much smaller like the shape of a crescent moon. Our red blood cells
But what does this mean, well first a mutation is an abnormality much in the way that cancer is an abnormal growth within the body. These are mutations, unfortunately we don’t get the same types of mutations that the X-Men have. Our body’s are made so that everything perfectly fits in each hole or socket, well red blood cells are normally round and smooth. Red blood cells are designed to be able to flow smoothly through blood vessels which is why they are smooth and round. Like mentioned earlier Sickle cell anemia is a mutation of the hemoglobin or the blood cells themselves. The blood cells stack on one another into long tube like structures. The cells become sickle shaped and become rigid. The sickling starts on the chromosome 11. While the cells are stacking up they are damaging vital organs such as the lungs and the heart. Everyone gets a copy of the hemoglobin gene from each parent. If both genes are carriers of the sickled trait, there will be high probability that the offspring will have Sickle cell anemia. Sickle cell is not contagious and cannot be caught, it is passed along genetically. Through research we have found that there are different types of the sickling disease. There is Hemoglobin SS (Sickle cell anemia), hemoglobin SC and hemoglobin sickle betathalassemia which is known as Mediterranean
What is Sickle Cell Anemia? Sickle Cell disease is a blood disorder that is inherited. By inherited I mean passed down from parents to their children. Babies are usually born with sickle cell disease. When they inherit two abnormal genes, one from each parent. Abnormal genes cause the body’s red blood cells to change shape. This being the effect of having sickle cell disease.
Sickle Cell Anemia is a horrifying, scary disease to have. Sickle cell anemia is a blood disease that is inherited. It comes from substitutions between a single amino acid and a component protein of hemoglobin. Globin, which is the component protein that has the substitution, isn’t effective. When someone has sickle cell, hemoglobin molecules with those component proteins, stick together and make strands of hemoglobin in red blood cells. Cells with that strand end up stiff and long, known as sickle shaped. Also, with sickle cell, those cells die faster than normal red blood cells and they aren’t easy to replace in a fast manner. Anemia within itself is when there is a huge shortage of red blood cells. When you think about the disease and
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