Genetic Mutation

Sickle Cell Anemia is a group of disorders that cause red blood cells to become misshapen and break down. Sickle Cell Anemia affects many people all over the world; Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans (Ashley-Koch, Yang and Olney). Sickle Cell Anemia causes your red blood cells to be thin, stiff, and shaped like a sickle. But your red blood cells are supposed to be round and soft. When a person is diagnosed with sickle cell anemia the blood cells start to become clogged blood vessels, which can cause a great amount of health issues including: infections, stroke, and acute chest syndrome. People get sickle cell anemia by inheriting a mutated gene from both of their parents. On the down side, there is not currently an effective cure for sickle cell anemia, there are several different therapeutic approaches to treating and attempting to cure the disease and help people who are affected with sickle cell anemia better manage their symptoms. There have also been several great scientists that dedicated a lot of research to help find a cure for sickle cell anemia.

According to research, PKU is “an autosomal recessive genetic disorder characterized by mental retardation due to a deficiency in phenylalanine hydroxylase, an enzyme necessary to metabolize the essential amino acid phenylalanine to tyrosine. Without phenylalanine hydroxylase, phenylalanine is converted to neurotoxic phenyl pyruvic acid” (Gonzalez, 2009). For those who have PKU, the phenyl pyruvic acid would become quite toxic and lead to damage within the brain causing mental retardation. PKU was first discovered in 1938 by a man named Asbjorn Fölling, and throughout the early 1960s phenyl pyruvic acid was found in urine using a reaction with ferric chloride. However, it was in 1958, that Dr. Guthrie transferred to the Buffalo Children’s Hospital and was able to develop a new approach to measure and monitor

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

Phenylketonuria, or PKU, is an autosomal recessive, heritable disease that decreases levels of the enzyme phenylalanine hydroxylase, which is responsible for the metabolism of the amino acid phenylalanine, resulting in an unhealthy buildup that can lead to brain damage, seizures, and intellectual disability. While not curable, PKU, if detected early on, can be treated to allow sufferers to lead full and healthy lives. The symptoms of PKU appear almost immediately after birth, requiring parents and hospitals to make the necessary preparations, including feeding infants with special formula. Lack of such care can result in

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 disease is an inherited blood disorders which leads to an abnormal hemoglobin or red blood cell shape. Hemoglobin is the protein found in red blood cells which transports oxygen throughout the body. Sickle cell disease is inherited by being passed on through genes from parents to their offspring. It is not a contagious as one cannot contract it through an infection or being with someone else. Individuals with Sickle cell disease inherit two abnormal hemoglobin genes from each parent respectively. The alteration in the composure of hemoglobin of someone with sickle cell leads to the change in red blood cell shape from a normal circle to a sickle shape. This leads to blood clotting, dehydration, anemia, and low oxygen in tissues. Furthermore, some other negative side effects of Sickle cell anemia are weakened bones and an overworked heart. Although Sickle cell has no present-day cure, there are experimental trials being conducted through bone marrow transplant and has proven effective. The primary goal of this transplant study is to reduce and ultimately eliminate the frequency of the Sickle cell episodes, crisis maintain normal hemoglobin levels. There are ways to prevent episodic sickle cell crisis such as staying adequately hydrated, limiting physical activities, blood transfusions and taking

All of the cells within the tissues of the body need a regular supply of oxygen to function. The hemoglobin found in red blood cells (RBC’s) are essential for the proper transport of oxygen molecules. They bind oxygen in the lungs and carry to every tissue within the body. Due to the structure of hemoglobin, normal RBC’s are donut shaped with a concaved center. This flexible shape is what allows the BRC’s to move freely into very small spaces such as capillaries where they will deliver their oxygen. Sickle cell anemia or other diseases that fall within the broader group of disorders characterized by SCD describe conditions where the protein (hemoglobin) has misfolded and altered the shape of the cell. Sickle hemoglobin allows for the formation of stiff rods within the red blood cell giving it a sickle, or crescent shape. This new shape is not flexible and can block or slow the flow of blood. When this occurs, oxygen cannot reach its intended tissues. This results in severe pain called crises, and these attacks occur

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 disease is a hereditary blood disorder most common in the African American community. Many people are carriers of the sickle cell trait, however in order for a person to develop sickle cell disease both parents must have passed on the trait to their child. Sickle cell disease causes a mutation in normal red blood cells resulting in decreased tissue perfusion and organ damage. This causes partial or complete replacement of normal hemoglobin with abnormal shaped sickled cells. An abnormal shaped sickled cell may become lodged to a blood vessel where other cells then bind to it and begin to form a clump. The blood vessels continually attach to each other and result in a blockage of small blood vessels eventually resulting in organ

The sickle-shaped red blood cells break apart easily, having a shorter lifespan of only 10-20 days instead of the normal 120 days and aren 't replaced as quickly as normal blood cells. This leads to a shortage of red blood cells, known as anaemia.

In the United States, Phenylketonuria (PKU) affects about 1 in 10,000 to 15,000 newborn babies, making it a very uncommon genetic disorder (U.S National Library of Medicine, 2016). Phenylketonuria stems from an abundant buildup of an essential amino acid called phenylalanine that can become very dangerous when it reaches excessive levels (U.S.National Library of Medicine, 2016). The excessive buildup of phenylalanine is caused by an alteration in the gene which codes for the enzyme known as phenylalanine hydroxylase (PAH), which functions in breaking down the aforementioned essential amino acid phenylalanine (U.S National Library of Medicine, 2016). This genetic mutation is caused by an autosomal, recessive genetic mutation in chromosome 12 (Genetic Science Learning Center, 2016).

A Phenylketonuria (PKU) test is done on newborn babies to determine if they have the necessary enzyme needed to use Phenylalanine in their body. Phenylalanine is the amino acid needed for normal development and growth.

Sickle Cell Anemia is a group of disorders that cause red blood cells to become misshapen and break down. Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans (Ashley-Koch, Yang and Olney). Sickle Cell Anemia causes your red blood cells to be thin, stiff, and shaped like a sickle. But your red blood cells are supposed to be round and soft. A person that is diagnosed with sickle cell anemia, their blood cells start to become clogged, causing blood clots, which can cause a great amount of health issues including: infections, stroke, and acute chest syndrome. People get sickle cell anemia by inheriting a mutated gene from both of their parents. On the down side, there is not currently an effective cure for sickle cell anemia, there are several different therapeutic approaches to treating and attempting to cure the disease and help people who are affected with sickle cell anemia better manage their symptoms. There have also been several great scientists that dedicated a lot of research to help find a cure for sickle cell anemia.