Introduction
One of the major causes of microcytic anemia is Thalassemia. It is a very common hereditary blood disorder where the proteins called hemoglobin, which are located in red blood cells and have the function of carrying oxygen, are abnormally formed. It is mainly because of an imbalance in the production of alpha or beta globin. To be normal, one must have an equal production of both alpha and beta globin in their body. However, when the body does not produce this in equal proportions, it causes a condition such an Anemia. Anemia is a disorder where your body does not have enough healthy red blood cells to transport enough oxygen in the body. The Thalassemia disease is caused due a genetic mutation, or a deletion on very certain key genes.
History
Dating back to the early 1900s was when Sickle cell disease was first discovered. Studies from different Pathologist and researchers concluded the abnormal shapes of hemoglobin, which back then was referred to as “hemoglobin S”, caused that sickle cell disease. This disease however was only understood at a biomechanical level, researchers had only grasped the concept that the changing shape of the hemoglobin was due to the change in a single amino acid error in hemoglobin S.
Any progress in this field was only developed in the early 1970s during the civil right movements. The only reason that there was no significant research that was done in the field back then especially in the United States of America was because the
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
Among human beings, Sickle-Cell Anemia is a particularly well-studied example of adaptation. This chapter teaches me that Sickle-Cell Anemia is a painful disease in which oxygen-carrying red blood cells change shape and clog the finest parts of the circulatory system (page 57). Sickle- Cell changes their shape from the usual discs to shrunken sickle shapes. These sickle shaped red blood cell gives the disease its name. This type of disease is caused by a genetic mutation in a single base of the hemoglobin genes (page 58). It is considered that this disease is the result of when two abnormal Hemoglobin, a protein in red blood cells that passed down from parents to child as an autosomal recessive pattern. I don't not know anyone personally with
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
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 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 term sickle cell infection (SCD) depicts a gathering of acquired red platelet issue." Normal red blood cells are shaped like discs or donuts. They are soft and flexible so they can easily move through very small blood vessels"(anonymous, 2015).Individuals with SCD have anomalous hemoglobin, called hemoglobin S or sickle hemoglobin, in their red platelets. Hemoglobin is a protein in red platelets that conveys oxygen all through the body. The most well-known sort is known as, sickle-cell frailty (SCA) and there is A few Types of Sickle Cell Sickness: Hemoglobin SS, Hemoglobin SC, Hemoglobin SD. In the Unified States, a great many people with sickle cell illness (SCD) are of African family line or recognize themselves as dark. About1 out of 13 African American children is
The effects of the sickle cell mutation can be traced back to DNA in which the mutated gene is replicated and transcribed to mRNA. This mRNA is then used to synthesize polypeptides in the ribosomes where it translates the mutant genetic code (GUG) which codes for valine. Instead of the genetic code for glutamic acid (GAG) which is the amino acid found in the normal haemoglobin. This causes the haemoglobin to be clumped up together in the red blood cells and depriving them if oxygen causing a sickle shaped cell instead of the normal round, biconcave
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
Sickle cell disease is a chronic condition that a person can inherit from their parents in which it effects the globular structure of the patients red blood cells. A more sickle shaped structure, which can alter a person’s blood flow, replaces the more common globular structure. This impairment in blood flow can lead to blood clots, severe debilitating pain and damage to vital organs such as the liver, kidney and spleen. This disease currently affects over 90,000 people in the United States, with the majority of them being African American and
Sickle cell disease (SCD) is an inherited and noncontagious, lifelong condition. More specifically, per Ohaeri, Shokunbi, Akinlade, & Dare, 1995, SCD is a generic term for a group of genetic disorders characterized by the predominance of sickle cell hemoglobin (Hgb). Hemoglobin is a protein in the red blood cells that carries oxygen throughout the body. The disease produces significantly abnormal Hgb molecules in red blood cells (RBCs). In sickle cell anemia, the red blood cells become rigid and sticky and are shaped like sickles or crescent moons. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body (Ohaeri, Shokunbi, Akinlade, & Dare, 1995, p. 955.Individuals
Pernicious anemia is typically caused by a weakened stomach lining, or an autoimmune condition where the body attacks the intrinsic factor or the stomach lining. Biermer’s disease is rarely hereditary, this is called Congenital Pernicious anemia this is where babies do not make enough intrinsic factor or there is something going wrong with the absorption process in the small intestine. The prevalence of Pernicious anemia is estimated to be diagnosed in 1/769 people while Congenital Pernicious anemia is estimated to be
When you pass an electric charge through a solution of hemoglobin, distinct hemoglobins move different distances, depending on their composition. This technique differentiates between normal hemoglobin (A), Sickle hemoglobin (S), and other different kinds of hemoglobin (such as C, D, E,). Medical Problems Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice and the formation of gallstones. The sickle cells also block the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain episodes (arms, legs, chest and abdomen), stroke and priapism (painful prolonged erection). It
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 an anemia that is inherited and mostly affects people whose heritage can be traced back to places where malaria was prevalent. There are approximately 100,000 Americans that have the disease and many more with the trait. Several of my family members are afflicted by this medical condition that causes red blood cells to take on an irregular shape.