Ana-Maria Sutac
Biochemistry 370
11/13/2015
Hemoglobin and Sickle Cell Disease
Introduction
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,
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These subunits are held together by ionic, hydrogen bonds, van der Waals forces, hydrophobic interactions as well as heme groups that are made up of Fe2+. Hemoglobin can be found in two different states. The first state is known as the T-state when it is tense and oxygen deprived. The second state is known as R-state when is relaxed and oxygenated. Hemoglobin first binds to oxygen then transports it to blood vessels, which have low oxygen levels. After it releases the oxygen the blood vessels, the red cells then transports carbon dioxide (CO2) from the tissues to the lungs where it picks oxygen once more.
Cooperativiy, Affinity, and Efficiency
When a subunit binds to oxygen, it changes it conformation and sends messages to other subunits to bind to oxygen as well. When more hemoglobin monomers (subunits) bind to oxygen, it is increasing hemoglobin’s affinity to oxygen, thus leading to better cooperativity. It was also discovered that there is a higher affinity for purified hemoglobin rather than the hemoglobin inside the red blood cells due to the anionic compound 2,3-bisphosphoglycerate (2,3-BPG). This molecule binds to hemoglobin in a small pocket only found in the T state when it is deoxygenized and allows it become stable. It further causes a reduction in hemoglobin’s affinity to oxygen, working out in its favor. During the transition from T to R state, the pocket containing 2,3-BPG is broken and
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 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
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
As mentioned earlier, SCD is Autosomal recessive, which means both copies of the sickle gene are inherited from the parents (Sickle Cell Disease). Those more likely to present with Sickle Cell Disease are of African, Mediterranean, and Caribbean origin (Sickle Cell Disease). Genes that SCD can carry in hemoglobin are as follows: Hemoglobin SS(hgbSS), Hemoglobin SC (hgbSC), Hemoglobin Sβ° thalassemia, hemoglobin Sβ°+ Thalassemia, Hemoglobin SD(hgbSD) and Hemoglobin SE(hgbSD) (What is Sickle Cell Disease?). Below is a case study about the Orca Family that shows family generations of SCD and the Sickle Cell
Platelets and leukocytes are less than 0.1% of formed elements but nearly 99.9% are nuclei-lacking red blood cells, whose biconcave disk-shape increases surface area and allows for the diffusion of oxygen (Martini et al., 2015). Erythrocytes contain hemoglobin proteins, where each protein has four iron-containing heme groups that can bind one oxygen molecule each (Surgenor, 2013). In other words, each hemoglobin protein can carry four oxygen molecules and there are over 250 million hemoglobin proteins per cell.
In sickle cell anemia, which is a common form of sickle cell disease, hemoglobin S replaces both beta-globin subunits in hemoglobin” (Genetics Home Reference 2012). The sickle cell trait is recessive, so a person must inherit the trait from both parents in order to have the disease. This means that a person could be a carrier for the gene and not know (Genetics Home
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
Heamoglobin is responsible for transporting oxygen around the body. The intake and release of oxygen molecules is regulated by several factors both external (chemical) and internal to the heamoglobin molecule. The main regulators of hemoglobin's oxygen affinity is oxygen presence. Heamoglobin has a higher oxygen affinity in the lungs and this affinity increases excessively with the amount of molecules it has bound to it (Sears,1999). So, after one molecule of oxygen is bound by the oxyheamoglobin its oxygen affinity will increase until the heamoglobin is completely saturated. Deoxyheamoglobin has a lower oxygen affinity and will disproportionately decrease with oxygen molecules already bound to it. In effect, the reaming oxygen's affinity
Sickle cell disease was discovered in 1910 in the United States. Many cases came to surface after that, and it was clear that sickle cell disease is predominantly common in the African American ethnicity. Sickle cell disease is caused by a mutation in the hemoglobin of red blood cells. The most common, known sickle cell disease is sickle cell anemia. There is no cure for Sickle cell disease, but there was a treatment that help relieve pain, prevent infections, and prevent organ damage. A drug called Hydroxyurea could be used to increase the production of fetal hemoglobin during pregnancy. Bone marrow treatment, is when stem cells are removed from one person to another person. Cord blood with stem cell transplantation, can replace someone’s abnormal stem cells with a donors stem cell.
Sickle Cell disease (SCD) is an inherited blood disorder in which abnormal hemoglobin is produced in red blood cells. The body creates sickle red blood cells, which are crescent shaped instead of the typical round shape. This shape of the sickle cells are stiff, as well as stick and because of this they tend to block blood flow in the blood vessels of the limbs and organs. This blockage will cause pain and organ damage, as well as serious infection. (National Heart, Lung, and Blood Institute [NHLBI], 2014.). Sickle Cell Disease is also known as sickle cell anemia and Hemoglobin SS Disease.
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.
First of all what is sickle anemia? It’s a disorder that is affects your blood cells and hemoglobin which is a molecule that is in your red blood cells that delivers oxygen to the cells and throughout your entire body. When people realise that they have sickle cell is when they have the following symptoms, chest pain problems and difficulty breathing, strokes, joint pain, arthritis and severe infections. People are diagnosed with sickle anemia at a very young age people get from their parents if both parents have a genetic gene of sickle then, more likely their offspring will have the disease it 's a very popular and common disease it affects millions of people worldwide the most common type of people who do get sickle cell anemia more than any other is African Americans because the disease is mostly in Africa and the Mediterranean countries such as Greece, Turkey, and Italy. In the United States the diseases affects more than, 70,000 to 80,000 american people and 1 and 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans have the disease already inside of their body what type of gene is making them have sickle cell that would the HBB gene is what causes sickle cell anemia. Why is it called sickle cell anemia because the hemoglobin is shape like a ‘S’ shape or it can be called a sickle instead of a normal round red cell some scientists think that the disease might be with the deadly disease of malaria because since it is common in Africa when the people
The other type of artificial blood is more of a blood substitute as it is derived from either outdated bovine or human red blood cells. It is known as Hemoglobin Based Oxygen Carriers (HBOC), Hemoglobin which is the oxygen carrying protein molecule found in red blood cells is extracted from the obsolete red blood cells through ultrafiltration and purification. The Hemoglobin must undergo specific processes in an attempt to prevent the Hemoglobin from disassociating from its natural four-chain configuration (Fridey 3). There is numerous methods of chemically altering the Hemoglobin to increase the molecules size so it does not dissociate and break down. The two main processes of enlarging the
In the blood stream are the red blood cells, which are made of a molecule, haemoglobin. Glucose sticks to the haemoglobin to make a 'glycosylated haemoglobin' molecule, called haemoglobin A1C or HbA1C. The more glucose in the blood, the more haemoglobin A1C or HbA1C will be present in the blood.
Sickle cell disease is a curse or a blessing, the disease is most common among African Americans. The rate of this disease is more frequent in Africa than here in the U.S. The reason for this is because sickle cell is immune from another disease called malaria, a mosquito-borne disease cause by a parasite. Sickle cell causes red blood cells to change and become a croissant-shaped, it occurs when inherited by two sickle cell gene, one from each parent. The major problem of sickle cell is hemoglobin. Hemoglobin is a protein in red blood cells that carries out oxygen. Hemoglobin with bound carbon dioxide and hydrogen ions is carried in the blood back to the lungs, where it releases the hydrogen ions and carbon dioxide and rebinds oxygen. (2002,