...A A Ms. Songer AP Biology February 16 2015 Sickle Cell Anemia: Case Study Summary Sickle Cell Anemia is a painful diseases that is caused by a mutation in the protein called hemoglobin which helps carry oxygen in red blood cells. Because of the mutation, the hemoglobin is shaped oddly which results in pain because it is hard for the blood to travel throughout the body and anemia because of the lack of oxygen in the blood. A person can only have this disease if both parents are carriers and they receive two recessive alleles. There are five effects of the disease at different levels. At the DNA level the mutation causes the sequence to be coded GTG, CAC instead of GAG, CTC which results in a mutant protein. At the protein level the hemoglobin clump together which makes it hard for it to travel through arteries and vessels. At the cellular level the blood cell because “sickle shaped” due to the lack of oxygen that constricts blood flow. In an organism sickle cell anemia causes pain and fatigue during exercise. The only positive effect is the resistance to malaria. These examples show how a small mutation has a very large (sometimes fatal) effect. Therefor large and small mutations can have big effects (“A case study of the effects of mutation: Sickle cell anemia,” 2015) 1. Sickle Cell Anemia is an autosomal recessive disease. These means that both parents of the offspring have to have one normal gene and one mutated gene. The mutated gene is caused by substitution in an...
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...Abstract: Sickle cell anemia is an important world health problem that involves the genetic of our body where an an approximate of about 300,000 infants are born per year in the world, thereby posing it as an important factor for parenthood where it can easily be avoided. Acute, chronic, and acute-on-chronic complications contribute to end-organ damage and adversely affect the quality of life. (ncbi.nlm.nih.gov/pubmed2017) This article describes this disease it's vaso-occlusive crisis that occur in these patients with its treatment modalities and preventive measures. INTRODUTION Sickle cell anemia is a type of hemolytic anemia involving heamoglobinopathies of the human blood leading to a presence of a mutated form of hemoglobin with a sickle...
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...Sickle Cell Anemia Dennis Martin Jersey College School of Nursing Pediatric Nursing NUR205 Ms. Fran Davis September 30, 2013 Abstract Sickle cell disease (SCD) is a multisystem disease, associated with episodes of acute illness and progressive organ damage, and is one of the most common severe monogenic disorders worldwide. Understand of the disease has gradually increased since the disease was first described with a characteristic sickle shaped erythrocytes by Herrick in 1910 (Herrick, 1910). This literature will cover what is SCD, along with other topic such as pathophysiology, etiology, sign and symptoms, risk factors and patient teaching. Sickle Cell Anemia Sickle cell disease (SCD) is a multisystem disease, associated with episodes of acute illness and progressive organ damage, and is one of the most common severe monogenic disorders worldwide (Weatherall, Hofman, Rodgers, Ruffin, & Hrynkow, 2004). Understand of the disease has gradually increased since the disease was first described with a characteristic sickle shaped erythrocytes by Herrick in 1910 (Herrick, 1910). In 1951 A Nobel Prize-Prize winning chemist by the name of Dr. Linus Pauling and his colleague Dr. Harvey Itano, discovered that the red, oxygen carrying protein called "hemoglobin" had a different chemical structure in persons with SCD. This led Dr. Pauling to coin the term "molecular disease" for disorders that resulted from proteins and abnormal chemical structures (Winter, n.d.). Although...
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...Sickle-cell disease From Wikipedia, the free encyclopedia This article is about the disease itself. For the genetic transmission of sickle-cell disease and its carrier state, see sickle cell trait. Not to be confused with Sick cell syndrome. Sickle-cell disease Classification and external resources Figure (A) shows normal red blood cells flowing freely through veins. The inset shows a cross section of a normal red blood cell with normal haemoglobin. Figure B shows abnormal, sickled red blood cells log jamming, sticking and accumulating at the branching point in a vein. The inset image shows a cross-section of a sickle cell with long polymerized HbS strands stretching and distorting the cell shape. ICD-10 D57 ICD-9 282.6 OMIM 603903 DiseasesDB 12069 MedlinePlus 000527 eMedicine med/2126 oph/490ped/2096 emerg/26emerg/406 MeSH C15.378.071.141.150.150 GeneReviews • Sickle-cell disease Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood disorder, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the haemoglobin gene. Individuals with one copy of the defunct gene display both normal and abnormal haemoglobin. This is an example of codominance. Life expectancy is shortened. In 1994, in the US, the average life expectancy of persons with...
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...of disease and poor diet. There are three different blood disorders that stem from theses causes: sickle cell anemia, thrombocytopenia, and iron deficiency anemia. Each of these blood disorders are diagnosed, treated, and have different prevention methods. Sickle cell anemia causes normal round red blood cells to become crescent shaped. Normal red blood cells can easily move throughout the body’s blood vessels and supply the body with the adequate amount of oxygen enriched blood. But crescent or sickle shaped red blood cells often get stuck in the blood vessels blocking the vessels and causing the stop of oxygen from getting to the bodies organs, tissue, muscle, and bones. Sickle cell anemia is caused by an inherited genetic trait by both of the parents of the affected child. If the child only inherits the sickle cell gene from one parent then the child is said to have the trait but not the disease. However, the child that has only the trait is considered a carrier of the disease and can pass the gene to his or her children. Most people are diagnosed with sickle cell anemia when they are born by having a simple blood test that most hospitals require at birth. Antibiotics are the first course of treatment and it is given to children between the ages of two months to five years of age. Parents are also encouraged to have their children’s routine childhood immunizations on time. The hardest part of this disease is the pain that the patient goes through by the sickle cells blocking...
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... Sickle Cell Anemia Assignment #2 BIOL 1010 James Cheetham May 29 2014 Sickle Cell Anemia, Also known as Hemoglobin S Disease (HbS Disease), spreads along the lines of anemic or iron deficient blood types . Hemoglobin is the red protein that is responsible for transporting Oxygen in vertebrates. It is composed of 4 protein subunits, two called Alpha – globin and two called Beta-globin. The HBB gene, located on the 11th Chromosome (11p15.4 specifically and its locus MIM number is141900), provides “Instructions “ for making the beta globin but unfortunately nothing in life is perfect and mutations are bound to occur. Various versions of Beta Globin result from different kinds of mutations in the HBB gene. Some mutations in the HBB gene lead to abnormal versions of beta globin such as hemoglobin C (HbC) and hemoglobin E (HbE). HBB gene mutations can also result in unusually low levels of beta-globin; this abnormality is called beta thalassemia .One particular mutation produces the abnormal HbS Beta globin. People with sickle cell disease, at least one of the beta globin subunits in hemoglobin are replaced with hemoglobin S. For example, people with sickle hemoglobin C (HbSC) disease have hemoglobin molecules with hemoglobin S and hemoglobin C instead of beta globin If mutations that produce Hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S-beta thalassemia (HbSBetaThal). In people with Sickle Cell Anemia...
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...Report on Sickle Cell Disease Name: Professor: Course: Date: Sickle Cell Disease Sickle cell disease is a life threatening illness passed down from parents to children through the genes (Piel & Weatherall, 2015). The disease therefore, is present at birth but the signs come to the fore after the fourth month. The disease has been recognized as a major public health concern by international agencies and is common among many people in Africa, the Arabian Gulf, Turkey, India; the Mediterranean and their descendants spread around the world. For instance, in United States one in 400 African-American infants is born with sickle cell disease annually (Ibid). Description of Sickle Cell Disease Sickle cell disease comprises of red blood cell disorders whose main feature is abnormal hemoglobin in the red blood cells. Hemoglobin is an oxygen carrying protein in the red blood cells (Peterson, 2008). The abnormality of the hemoglobin is caused by a mutation in a gene of the hemoglobin protein. This abnormality hinders the proper formation globin genes of the hemoglobin molecules resulting in abnormal hemoglobin that may take the forms of “S” hemoglobin or “SC” hemoglobin or “beta-thalassemia” hemoglobin as noted by (Rees, Williams & Gladwin, 2010). Types of Sickle Cell Disease The disorders; sickle cell anemia disease (caused by “S” hemoglobin), “SC” disease (caused...
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... Cindy Chapman Health and Diseases HVA/240 Lisa Shustack November 4, 2011 The purpose of plasma is to carry blood cells, suspended in it, and also serves as a transport system delivering various materials to and from the cells. Red blood cells carry oxygen from the lungs to the tissues around your body. It also gets waste carbon dioxide from your tissues to the lungs, where it can be breathed out. Platelets are to clot blood. They stop blood from flowing if a body part is cut. Plasma, red blood cells and platelets help the body run efficiently. If there is a problem with any one of these, the following scenarios may occur. Lily a 4 year old Caucasian female has iron deficiency anemia. Lily is only eating bread, pasta and hotdogs and she drinks only artificial fruit punch. Anemia is when the body does not have enough healthy red blood cells. Your body will make red blood cells that are too small or fewer red blood cells if your body does not have enough iron. This is called iron deficiency anemia. This is the most common anemia. Red blood cells bring oxygen to the body’s tissues. Healthy red blood cells are made in the bone marrow. Iron is a key part of red blood cells. Without iron the blood cannot carry oxygen effectively. Your body normally gets iron through your diet and by reusing iron from old red blood cells (U.S. National Library of Medicine). Iron...
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...Genetics is the study and the variation of inherited characteristics that make up a life. Every child inherits genes from both of their biological parents. Some of these traits may be physical; hair, eye color or skin colors, etc. The wonderful thing about genetics is the technology that has been made for it and how advanced it is to now do what ever it takes to fix the unborn. Each gene has its own piece of genetic information and DNA in the cell make up the human. Heredity genes is a biological process where a parent passes certain genes onto their children or offspring's which all falls under the study of genetics. Genes are rested inside the chromosomes in the human body. Some of these genes that are passed on can cause human genetic disorder. Human Genetic Disorder is an illness which is caused by chromosomes or genes abnormalities. Some disorders like the sickle cell trait disease are in part of genetic disorders. Other diseases like cancer are also caused by genetic disorders, but can also be caused by environmental factors. Most disorders are very rare and they affect only one person in a million. There are some types of recessive gene disorders which have an...
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...Title: Pain, Coping and Sleep in Children and Adolescents with Sickle Cell Disease (Quantitative?) Abstract: Purpose The study examined the relationships among pain, pain coping, and sleep, and assessed factors (age, gender, frequency, and intensity of pain) that affect pain, coping, and sleep in children with sickle cell disease ( SCD). Methods Participants (66) were 39 children ( M = 11.5 years) and 27 adolescents ( M = 15.5 years) with SCD who completed an electronic visual analog scale ( eVAS), Pain Coping Questionnaire, and Pittsburg Sleep Quality Index. Results About two-thirds of the children reported pain the previous month. No significant differences were found between pain and age, gender, pain intensity, or frequency. Most children coped with pain by seeking information, problem solving, seeking social support, and positive self-statements. There were significant negative correlations in males between worse pain severity and behavioral distraction and internalizing or catastrophizing. The majority (91.2%) had mild to severe sleep disturbances, with 18.2% requiring sleeping medication three or more times a week. There were no significant differences between sleep and age, gender, pain intensity, or frequency. Conclusion Children with SCD experience pain that affects sleep patterns and the way they cope with pain. Nurses need to concurrently assess pain, coping, and sleep and promote sleep hygiene and positive coping strategies during pain episodes. Graves, J. K....
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...Freddie Ntunga | Student ID Number: 21608670 Bucks New University Abstract An Essay Discusing the ImpacT of Sickle Cells on an Individual Health & Illness across the Life Span Introduction The concept of health is purely abstract in form and therefore remains indefinable to a great extent. It may be referred to an aspect that is considered to be prima facie with regard to the fulfilment of all kinds of objectives of human life. Being healthy does not essentially refer to being disease free only, as the World Health Organiastion definition of health encompasses a state of well being from the mental, psychological, social and physical perspectives. For providing a comprehensive definition to the concept of health it is vital to focus on the various aspects of health. The definitions of health can either address the functional needs of the humans which would put more attention on the individual’s ability to deal with various kind of situations and head towards its destination or from the humanist approach it can be considered as the state of self actualization that can be linked with empowerment. Health in other words can be stated as a pulpit which begets achievement. Health is the result of the natural environment, the built up environment and the social environment that the individuals are surrounded with from the time of its very conception ( Zhang et al,.2011). The natural environment constitutes the genetic background of the individuals involving certain unique...
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...genetically manipulated mammal in the world and (2) it shares much of its genetic material with humans (and other mammals) which means that experimental findings in mice will often be directly relevant to conditions in humans. The paper focuses on the controversies and challenges in Gene Knockout Technology – an article/blog entitled “Sickle Cell Disease cured by Gene Knock-out”. Switching off a single gene can help treat sickle cell disease or sickle cell anemia (a chronic, usually fatal anemia marked by sickle-shaped red blood cells, occurring almost exclusively in Black people of Africa or of African descent, and characterized by episodic pain in the joints, fever, leg ulcers, and jaundice. The disease occurs in individuals who are homozygous for a mutant hemoglobin gene) by keeping the blood forever young. The illness is caused by a mutant form of adult haemoglobin, but not by fetal haemoglobin. Targeting BCL11A, the gene responsible for the body's switch-over from fetal to adult haemoglobin, effectively eliminates the condition in mice. The mutant form of adult haemoglobin forms long sticky chains inside red blood cells. The cells containing these chains can clog small blood...
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...Sickle cell anemia is the most prevalent genetic disorder in the United States, which falls under the broad term of sickle cell disease. This term is frequently used to describe a group of chronic hemolytic anemias (Falvo and Holland, 2014; National Human Genome Research Institute, 2016). Chronic hemolytic anemias, or SCA is an inherited disorder characterized by abnormal hemoglobin caused by a recessive allele that changes its structure (Falvo and Holland, 2014). An individual can inherit two sickle cell genes (one from each parent) or a sickle cell gene in combination with another abnormal gene that causes this change within their red blood cells. A normal hemoglobin molecule is biconcave shaped which allows red blood cells to flow easily...
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...The Jungle: “Sickle-Cell Safari” Chapter Questions 1) How did Tony Allison’s early life experiences in Kenya prepare him to make the discovery of the sickle cell-malaria link? * As a young child, Tony Allison was interested in science. On school holiday’s Tony would take trips with a family friend to observe African birds and when he became a teenager, he had the opportunity to study artifacts of “Elmenteitan” culture. Unfortunately, when he was about ten years old, Tony Allison contracted malaria. While studying at Oxford University, Allison connected malaria with the location in which he contracted it. Through his knowledge of how malaria is contracted and the location of which he caught the disease, Allison was able to create a prediction about the location in which malaria is mostly contracted. Having the location and studying the blood of the people who lived in certain areas, he realized that people who have sickled blood cells are more likely to contract the disease. Also, Tony pieced together that there was a possibility that the HbS allele, in heterozygotes for sickle cell anemia, aided in some degree of resistance to malaria. Without his early life experience of being diagnosed with malaria and without his background knowledge of Africa, Tony Allison may have had a more difficult time trying to discover the connection between sickle cells and malaria. 2) What makes the sickle-cell mutation a balanced polymorphism? * The sickle cell mutation is an...
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...Recurrent Stroke in Children with Sickle Cell Disease Receiving Blood Transfusion Therapy for at Least Five Years After Initial Stroke Taylor Kaplan University of Bridgeport Physician Assistant Institute Introduction Sickle cell disease is an inherited blood disorder that is characterized by a defect in hemoglobin. Normally, red blood cells take the form of a biconcave disk and can easily move through the vessels throughout one’s body. Sickled red blood cells however are very different; these damaged red blood cells cluster together as a result of the loss of oxygen and can no longer easily move through blood vessels in the body. This cluster creates a blockage in small arteries or capillaries and prevents the...
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