Genetic Disorders: Sickle Cell Anemia

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

Sickle Cell anemia is a group of inherited red blood cell disorders, or a collection of recessive genetic disorders characterized by a hemoglobin variant called Hb S. Normal red blood cells are round like doughnuts, and they move through small blood tubes in the body to deliver oxygen. Sickle red blood cells become hard, sticky and shaped like sickles used to cut wheat. When these hard and pointed red cells go through the small blood tube, they clog the flow and break apart. This can cause pain, damage and a low blood count, or anemia. There is a substance in the red cell called hemoglobin that carries oxygen inside the cell. One little change in this substance causes the hemoglobin to form long hard rods in the red cell when it gives

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.

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 anemia (SCA) is an inherited blood disease which causes normal, round, healthy red blood cells to transform into sickle-shaped cells. Normal red blood cells are flexible and can easily pass through capillaries to bring oxygen to different parts of the body. However, sickle cells are fragile, and can easily die, leading to anemia (red blood cell deficiency). SCA can also cause blood vessel occlusion (blockage of blood vessels), tissue infarctions (death due to lack of oxygen), bone, joint, and abdominal pain, yellow eyes and skin, pale skin, delayed growth, increased risk of infections, and damage to organs. The disease is passed on by autosomal recessive inheritance, which means both parents of a child must have the defective gene for the child to be affected. If only one gene is inherited, the victim becomes a carrier of the sickle cell trait, producing only some sickle cells with little or no symptoms. This means two people with the trait have a 25% chance of having a baby with sickle cell disease, 25% chance of them having no defects, and 50% chance of the baby becoming a carrier as well. When the gene is inherited, it mutates the beta (β) globin gene in chromosome 11, changing the hemoglobins produced using instructions from the gene from a healthy hemoglobin A (Hb A) to a mutated hemoglobin S (Hb S). Many tests can be done to check for sickle cell disease, the most common being an ordinary blood test, where the blood is examined for hemoglobin S. If the

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 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

Sickle cell anemia, a genetic disease that affects a minority of individuals with African, Indian, and Mediterranean heritage, has been present in Africa for thousands of years, but was only recently “discovered” by countries outside of Africa. The so-called discovery occurred in 1904 when a young African-American dental student complained to Dr. James B. Herrick of chronic pain episodes. Because Dr. Herrick’s speciality was cardiology, he deferred the case to another doctor, Dr. Ernest Iron, to the case. While examining the student’s blood under a microscope, Dr. Earnest Iron discovered an interesting anomaly; he aptly described the red blood cells as “having the shape of a sickle”. After being referred

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 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.

Sickle cell anemia is a disorder that is caused by the abnormal shape of hemoglobin cells in the body. In lecture we learned that hemoglobin is the molecule that is present in red blood cells. Hemoglobin is responsible for supplying oxygen to other cells throughout the body. Red blood cells are normally rounded in shape, defected cells are in a long shafted shape, which gives the disease its name. When red blood cells sickle, they break down which causes anemia of the cells. Sickle cells can result in an individual having a low red blood cell count, having repeated infections, and suffering from long episodes of pain in different parts of the body. The disease can also cause delayed growth in children, shortness in breathe, fatigue, swollen feet and hands, and also vision problems.

Sickle cell anaemia describes a hereditary autosomal recessive disorder that affects a protein found in red blood cells (erythrocytes) called haemoglobin. This disease results in 100% of blood cells becoming sickle shaped. The co-dominant sickle cell disease entails half of the erythrocytes becoming sickle shaped and the remaining half as normal biconvex structures, however, these people are carriers and can pass the disease or anaemia onto their offspring. Prevalence of significant morbidity and mortality of sickle cell disease is clear in Africa, the Mediterranean, India, Central America and the Carribean, with estimates suggesting 250 000 children are born annually with sickle cell anaemia (reference). Haemoglobin ss the autosomal recessive genotype, inherited from both parents, causes the phenotype of sickle cell anaemia. When erythrocytes become rigid and sticky, they cannot flow smoothly through small vessels, consequently, slowing or blocking blood flow and oxygen around the body. This prevents oxygen from reaching vital organs such as the spleen, liver, lugs, heart and kidneys, causing extensive damage as lack of oxygen results in cell death.(1) Sickle cells only live an

Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change (mutation) in each copy of their HBB gene: one that causes red blood cells to form a "sickle" or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can