Sickle Cell Anaemia (SCA): A Genetic Analysis

Sickle cell anemia is blood disorder characterized by red blood cells assuming a sickle shape. Ordinary small changes in red blood cell shape would not adversely affect the individual. However, due primarily to the excessive shape changes in the red blood cell; complications can arise within the individual. By forming a sickle shape, the red blood cell loses a disproportionate amount of its flexibility due a hemoglobin mutation. Normally, red blood cells are very elastic. This allows them to easily and seamlessly matriculate through the capillaries of the blood system. In sickle cell disease, low oxygen tension promotes red blood cell sickling. After repeated bouts of low oxygen environments the cells fail to return to normal shape when normal oxygen tension is finally restored. This then presents complications as the red blood cells can not matriculate through the capillaries. Due to this mutation complications arise the ultimately shorten the individuals lifespan. For example, as of 2008, the life expectancy of an individual infected with sickle cell anemia is roughly between 60-65 years of age. This is in stark contrast to an ordinary human being who is expected to live roughly 80 years. Various complications can occur that often shorten the lifespan of those who carry the gene. Complications include vaso-occlusive crisis which is caused by red blood cells restricting blood flow through the capillaries

Sickle Cell Anemia is a genetic disease that causes some red blood cells to take the form of a sickle this form is more easily destroyed which can lead to anemia. The disease is caused by defective hemoglobin. There are different types of hemoglobin, but Hemoglobin A is the primary hemoglobin affected by sickle cell. Hemoglobin A is made up of 2 alpha globin chains and 2 beta globin chains. The beta globin chain becomes misshapen due to a mutation. The mutation in the beta globin chain occurs when the sixth amino acid is valine instead of glutamic acid. Valine is Hydrophobic which has different properties than glutamic acid which is Hydrophilic. When the cell is deoxygenated it combinates with other cells that have the mutation

The genetic disease sickle cell anemia is a very fascinating disease. I was glad and beyond astonished on how this genetic disease was discovered, described, treated, and all the obstacles the carrier had to weave through each and every day. Sickle cell anemia is actually carried on the 11th chromosome. Chromosome 11 codes for the beta subunit of the hemoglobin protein. As a result, since the chromosome is damaged it cannot produce hemoglobin for the cell causing the cell to form into a “C” or sickle shape, hence the name sickle cell anemia. Sickle cell can cause hand-foot syndrome which is swelling of your hands or feet, very common in infected newborns. You can also experience episodes of pain. It is the most common symptom to deal with.

Sickle cell anemia (SCA) is an inherited disease of the blood that is characterized by the production of abnormal hemoglobin S causing the cell to acquire a sickle shape that prevents the smooth flow of blood to a major organ (Shea et al. 2017). The stress is usually caused by fever, infection or cold temperature, which lead to sickle cell crisis caused by hypoxia, dehydration, and acidosis (Barranger, 2017).

Hemoglobin is a very important protein in our blood that carries oxygen from our lungs to organs and surrounding tissues in our bodies. When hemoglobin has an inaccurate amount of production of beta globin, the normal red blood cells are changed in shape. [4] The cells also contain Hemoglobin S which is not useable within the body. The loss of oxygen and change in shape causes one hemoglobin S cell to connect to another hemoglobin S cell to form into long crystals.[3] Once changed in shape, the newly formed sickle cells are not able to pass through vessels, as normal red blood cells do, and most often result in a blockage within the body. Once a vessel is blocked, oxygen is unable to be supplied to other areas in the body causing hypoxia, or lack of oxygen. This causes an attack known as pain crises in which the

Sickle cell anemia is the most famous, prevalent, and the subject of this paper. This blood disease is a genetically inherited blood illness in which the construction of unusually shaped red bloods cells occurs. This happens when a victim of this vicious disease receives two mutant copies of the hemoglobin gene from the individual’s parents. Hemoglobin A, A2, and F are the normal forms of hemoglobin in individuals without sickle cell disease or trait. The difference between the normal forms of hemoglobin is the nucleotides that decide which protein is made and how it’s folded. A-type is made up of two alpha chains and two beta chains. A2 is made up of two alpha and delta chains. F is made up of two alpha and gamma chains. Normally, the first six weeks after a child’s birth hemoglobin F is the main source of oxygen transport. After those initial six weeks, A-type hemoglobin takes control of the vascular

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

The conditions which are responsible for genetic abnormal sickle haemoglobin works as the action of a gene which could be derived from one parent only to produce the heterozygous condition (sickle cell trait) or from both parents to produce the homozygous condition (sickle cell anaemia). Molecular nature of abnormalities of the cells explained by many of the clinical features of the disease. When the red cells comes out of solution under conditions of reduced oxygen tension the S haemo sickle cell anaemia and anaesthesia globin and at last forms crystallisation producing sickle shaped cells(1)

Normal red blood cells are shaped like discs and look like donuts with no hole in the middle. They are rich in hemoglobin and carry oxygen from the lungs to the rest of the body. Sickle cell anemia is a disease in which the red blood cells become sickle shaped, or shaped like a crescent. Sickle cells also become sticky and tend to block the blood flow to the limbs and organs (“What is Sickle Cell Anemia?”). People who have sickle cell trait (SCT) do not have the disease, but instead are carriers of it. Most people who have SCT live their lives completely symptom free, however there are some complications that are associated with sickle cell trait. People who have the trait must be careful when they are completing strenuous exercise and when dehydrated. These cases, in extreme form, can lead to complications of sickle cell disease, and even death (“What You Should Know About the Sickle Cell Trait”).

Sickle Cell Disease is a genetic blood disorder that’s passed down to a child at birth from their parents. Babies inherit two abnormal genes one from each parent which causes the red blood cells to become deformed and change shape. Genes are elements is the cell that allows certain information determining traits like eye, hair color, etc. Normal rbc’s are flat, flexible, round with dimples in the middle taking on a doughnut like shape. These cells are able to move throughout the blood vessels suppling oxygen all over the body. Sickle rbc’s are long, stiff pointed ends, taking on an old farm tool called a sickle. Which is where its name derived from. These sickle shaped cell begin to bunch together causing a backup in the blood vessels causing

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 disease majorly affects the hemoglobin that is present in our blood. The job of hemoglobin is to help transport oxygen and carbon dioxide to and from the cells throughout our body. Hemoglobin is present specifically in our red blood cells. Each red blood cell contains two hundred and eighty million hemoglobin molecules. Red blood cells normal shape is a biconcave shape because of the lack of many organelles and a nucleus. The shape is so important to a red blood cells functioning that if it is not shaped normally it has major consequences. The shape helps them to fit through capillaries easier and also allows for an increased surface area which results in easier gas exchange. Sickle-cell disease is a genetic disease that causes issues in the oxygen/carbon dioxide carrying hemoglobin molecules that are present in our red blood cells.

Sickle Cell Anemia is a disease that affects how oxygen is carried throughout the body by blood. Specifically, sickle cell anemia is characterized by a change in the shape of red blood cells from a smooth donut shape to a crescent or sickled shape, almost the same shape as a crescent moon. The sickled cells are very long and stiff, so sometimes

Sickle cell disease is a red blood cell disorder in which affected individuals have irregular hemoglobin in their red blood cells. Individuals with sickle cell disease have red blood cells with hemoglobin that can contain “stiff rods,” which changes the shape from a disc to a sickle shape. This sickle shape is not flexible like normal disc shaped red blood cells; therefore, they can become stuck to the walls of blood vessels. When the cells become stuck to the blood vessel walls it can hinder or stop the blood flow resulting in neighboring tissues to not receive the oxygen they require, (What is Sickle Cell Disease?). The cause of illness and death in sickle cell disease patients is “impaired blood flow culminating in vaso-occlusion, with occlusive events occurring throughout the vascular tree, from the relatively low-shear and low-oxygen tension postcapillary venules to relatively high-shear and high-oxygen tension large cerebral arteries,” (Lu, Wood, & Higgins, 2016, p. 2751). Decreased blood flow is caused by a change in sickle cell blood rheology, elevated inflammation, and “cellular adhesion, with pathologic inflammation and adhesion likely arising at least in part as a result of the underlying altered sickle cell blood rheology,” (Lu et al., 2016, p. 2751).

Sickle Cell Anemia or SCA is a disease in which there is not a lot of healthy red blood cells to transport oxygen throughout the body(Mayoclinic.org). Sickle Cell was discovered a century ago and it as baffled scientist since then because of its unique relationship with malaria, how it affects people based on where they live, how it is relevant to Mendel’s discovery of genetic inheritance and how it affects the future.