Sickle Haemoglobin: Genetic Analysis

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 crisis is an acute form of sickle cell disease where pain and sickling are extensive (Byar, 2013). SCD is a genetic disease that predominantly affects black people of African decent (Gersten, 2016). Abnormal hemoglobin chains are the main issue with SCD (Byar, 2013). Normal hemoglobin chains are comprised of 99% hemoglobin A (HbA) however, in SCD an abnormal form of the gene, hemoglobin S (HbS) is present in approximately 40% of total hemoglobin (Byar, 2013). In order for a person to be born with SCD, both parents must carry the abnormal gene, HbS (Byar, 2013). HbS is extremely sensitive to the changes in oxygen amount of the RBC and when exposed to decreased oxygen the HbS cause the RBC to distort and become sickle-shaped,

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

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.

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 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.

Sickle cell disease is categorized as an autosomal recessive disease. That means in order for one to inherit the disease, they must inherit two recessive alleles for sickle cell disease, or hemoglobin S gene. Having only one recessive allele makes you a carrier. The disorder causes the affected person’s red blood cells to disfigure into a crescent or sickle, which differs from the normal red blood cells that shaped into a doughnut. Sometimes, cells in a sickle shape cannot get through the narrow passageways of the blood vessels as easily as normal red blood cells. This blocks blood from entering and oxygen can’t reach the affected person’s organs. It can also crystallize and block arteries and

Sickle Cell Anaemia is a heredity disorder in which the red blood cells are affected by altering into a mutated-form of haemoglobin, most commonly at low oxygen levels. The altered-form of haemoglobin are crescent-shape; which are not flexible and can easily block the blood flow in smaller blood vessels and arteries (refer to figure 1). When both alleles inherited carry the sickle cell anaemia disease; 100% of the body’s haemoglobin will mutate into the sickle (crescent) shape. Sickle cell disease is the codominance of only one inherited sickled allele, in which; the carrier can pass the disorder but does not express any significant symptoms or the anaemia itself. Sickle cell anaemia is an autosomal recessive disorder, thus both alleles must

Hemoglobin is a protein within erythrocytes responsible for binding, carrying, and delivering oxygen throughout the body. These disorders are inherited and therefore not contagious. For an individual to have sickle cell anemia each of their parents must have an abnormal hemoglobin gene and both of these genes must be expressed.

Sickle Cell Anemia is when a red blood cell is shaped into a different form and causes real bad diseases and sickness. Sickle cell Anemia also can be caused from blood loss. The sickle cells can get stuck in your blood cells and you won't be able to move your blood vessels. The molecule in the red blood delivers oxygen throughout the body. Other names for Sickle Cells is HbS, Hemoglobin S, Hemoglobin SS. Three important facts you need to know about sickle cell anemia is disorders, diagnosed, and genetic disorders.

The disease I choose to talk about is Sickle Cell anemia, which is a blood disease that is prevalent among the African American race. This disease is interesting to me because it is a hereditary disease, so it can only be contracted if your parents have the disease. Sickle Cell anemia is caused by abnormal hemoglobin, the red blood cells in your body contain two vital hemoglobin molecules, a protein that carries the oxygen through your blood to travel throughout the body. People with sickle cell anemia, they have two copies of abnormal hemoglobin referred to as hemoglobin S. The molecule is what causes the problems within the red blood cells, rendering them unable to properly complete the process of carrying oxygen where it needs to go.

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 cell anemia is caused by a defect in the gene that controls the production of normal hemoglobin, which is an iron-containing protein in red blood cells that transports oxygen from the lungs to body tissues. The defective gene results in the production of abnormal hemoglobin known as hemoglobin S. If you have the disorder, you inherited one gene for hemoglobin S from each of your parents. The gene is recessive, so if you received a copy of the gene from just one parent, you are a carrier of the sickle cell gene.

Sickle cell disease, also known as SCD, is a hereditary blood disorder that takes place due to mutation in the hemoglobin gene that is found in red blood cells. While it is said to have originated in Africa and is mostly predominant in African Americans, sickle cell disease is now common among different ethnic groups all over the world. Sickle cell anemia (HbSS) infects “an estimated 70,000 to 100,000 Americans”(Housman) and accounts for approximately 70% of anemia in the United States. Hemoglobin functions as an oxygen carrying protein as it carries oxygen from the lungs through the arteries and to the rest of the body. In sickle cell disease,