Premium Essay

Sickle Cell Anemia

In: Science

Submitted By tonyahimdi
Words 929
Pages 4
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 amino acid that distinguishes if a person is normal or has the disease. During meiosis chromosomes cross over which results in many possible DNA combinations. Simply by the luck of the genetic hand the two recessive chromosomes may come together and the offspring has Sickle Cell Anemia. A person can only have this disease if and only if they have both recessive genes ( “Sickle Cell Disease,”…...

Similar Documents

Premium Essay

Sickle Cell

...SICKLE CELL AND THE PAIN SICKLE CELL AND THE PAIN B Gibson SOC313 Social Implications of Medical Issues Instructor: Betsey Morthland July 23, 2012 SICKLE CELL AND THE PAIN Living with pain. What is sickle cell disease? Are you a carrier or do you have sickle cell disease? We will look at what is sickle cell disease and how do you know if you are a carrier. How many people have sickle cell disease, what challenges they face personally and socially? Are there programs to help people with sickle cell disease deal with pain management? This is just a peek at sickle cell disease. Sickle cell disease is an inherited disorder of the red blood cells. If you have sickle cell disease you have an abnormal type of hemoglobin. Sickle cell disease contains mostly hemoglobin*s. Blood cells become sickle and crescent shape, which causes them to have trouble passing through small round blood vessels. “When sickle-shaped cells block small blood vessels, less blood can each that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease.” (Florida Transition Project) There are several types of sickle cell disease – (SS) Sickle Cell Anemia, (SC) Sickle Hemoglobin C Disease, Sickle Beta-Plus, and Sickle Betz-Zero Thalassemia. Sickle Cell trait (AS) is an inherited condition and this condition is not sickle cell disease. People that have the trait are normally healthy and they are only......

Words: 2076 - Pages: 9

Premium Essay

Sickle Cell Anemia

...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...

Words: 4210 - Pages: 17

Premium Essay

Sickle Cell

...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.).......

Words: 1562 - Pages: 7

Premium Essay

Sickle Cell

...Sickle Cell Disorder Research Paper Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal sickle or crescent shape. Red blood cells carry oxygen to the body and are normally shaped like a disc. Sickle cell disease refers to a group of inherited red blood cell disorders. It is the most common genetic disease in the U.S. An estimated 70,000-80,000 Americans have sickle cell disease. 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. What is sickle cell trait? A person with the sickle cell trait does not have (and will never have) sickle cell disease. However, the presence of the trait may impact his/her children How do you get sickle cell disease? Sickle cell disease is not contagious; you cannot "catch" it. You inherit it from your parents. If, for example, one parent has normal hemoglobin ( type AA) and the second parent has abnormal hemoglobin ( type AS, or the sickle cell "trait"), there is a 50% chance that each child will have the sickle cell trait, but they will not have sickle cell disease ( type SS). The three most common forms of the disease in the United States are: 1.......

Words: 697 - Pages: 3

Free Essay

Leukemia and Sickle Cell Anemia

...then there adult counterparts. With childhood leukemia treatments, some of the after effects of the treatment can last throughout ones adulthood. The Different Types of Leukemia. Leukemia, the types are grouped based on the plasma cell that’s affected. Leukemia, there is four different types to be considered. (CLL) Chronic Lymphocytic Leukemia: All the (lymphoid) cells are affected and they also grow slow do to the affection. This type accounts for the most of the leukemia’s found is personnel. People that are affected with this type of leukemia are those within the late ages. It is rarely ever found in children. (CML) Chronic Myeloid Leukemia: The (myeloid) cells are the one affected in this type and at first it grows slow then it picks up later on. This type also accounts for nearly a ¼ of new cases reported each year. Mainly affecting only adults. (ALL) Acute Lymphocytic (Lymphoblastic) Leukemia: Only the (lymphoid) cells are affected at a rapid rate and continue to grow quickly. This type also accounts for a ¼ of new cases of leukemia reported each year. This type is the main leukemia located in children at a young age. It may also affect adults to. (AML) Acute Myeloid Leukemia: Affects only (myeloid) cells only and grows rapidly. It accounts for more than a 1/3rd of new cases reported each year. It may be found in children and adults, it doesn’t have a particular host it wants to pick. What are the Risk Factors? There are many......

Words: 1226 - Pages: 5

Premium Essay

Sickle Cell Anemia

...Sickle cell anemia primarily affects people with African, Mediterranean, Middle Eastern, and Indian ancestry (Learn genetics, 2010; NHLBI, n.d.; Vorvick et al., 2010). Sickle cell anemia occurs when a person inherits two sickle cell gene, one from each parent, that cause the red blood cells to change and become crescent shaped. The underlying problem involves hemoglobin, a component of the red blood cells. Hemoglobin is a protein molecule in red blood cells that carries oxygen from the lungs to the body’s tissues and returns carbon dioxide from the tissues to the lungs (Nabili, 2008, para. 1). In sickle cell anemia, the hemoglobin is flawed. As a result, the cells become sickle shaped and can’t travel as easily through blood vessels. Sickle cell anemia is an illness which has one primary cause, but a variety of symptoms and treatments. Like most illnesses, sickle cell anemia has one primary cause. In order for sickle cell anemia to occur, a sickle cell gene must be inherited from both the mother and the father, so that the child has two sickle cell genes (Shiel, 2006, para. 3). The sickle cell gene causes the body to make abnormal hemoglobin. As mentioned above, hemoglobin is a protein molecule in red blood cells that carries oxygen from the lungs to the body’s tissues and returns carbon dioxide from the tissues to the lungs (Nabili, 2008, para. 1). A person with normal red blood cell will have hemoglobin A, however a person with sickle cell disease will have hemoglobin S......

Words: 998 - Pages: 4

Premium Essay

Sickle Cell

...Sickle Cell Disease Charlie Wilson HHC/220 March 13, 2014 Mark Perry Sickle Cell Disease Sickle cell anemia or SCD is a condition that is inherited genetically by abnormal, red blood cells (erythrocytes) that has a form of sickle-shape. According to the Sickle Cell Society (2005), the beginning stage of this disease can begin as early as four months of age but are more common between one and two years of age. Symptoms while in childhood stage to adulthood consist of the following: * Breathlessness * Fatigue * Paleness * Painful aches throughout the body. * Swelling of feet and hands. * If you’re a male with this disease, you can experience painful erections. ( http://www.bio.davidson.edu/people/midorcas/animalphysiology/websites/2005/Eppolifo/into.htm) Sickle cell can cause strokes in children as young as eight years of age. An individual who inherits this disease usually has a life span up to the middle 40’s. (SCDAA, 2005) PERI Model Utilization Sickle cell is a disease that is lifelong and inherited. This disease affects millions of individuals around the globe. Sickle cell is inherited from other family members that are carrying the sickle cell trait without having the disease itself. Most individuals who genetically inherited sickle cell has both parents with the gene or if one parent has the gene and the other do not, the child is likely to receive the sickle cell trait. The disease is very serious when the red blood cells form into......

Words: 1578 - Pages: 7

Premium Essay

Sickle Cell Anemia

...Sickle Cell Anemia Prepared by: Jozalyn Velez Outline • Definition • Symptoms • Causes • Diagnosis • Treatment/prevention • conclusion Sickle Cell Anemia Sickle Cell Anemia is an inherited form of anemia, a condition in which there isn’t enough healthy red blood cells to carry sufficient oxygen throughout your body. Normally a person has flexible and round blood cells. With Sickle Cell anemia, Hemoglobin molecules in red blood cells, that carry oxygen in the body, are defective causing some of the red blood cells to change and form a sickle, or crescent moon shape. Symptoms Pain: The sickle cells are sticky and get stuck, clump together, resulting in a blockage in the flow of blood small blood vessels. This blockage in the flow of blood causes episodes of pain, called crises, a major symptom of Sickle Cell Anemia, to the person. Anemia: In anemia, the sickle cells die quickly. Normal red blood cells usually last about 120 days before they die and are replaced, but sickle cells only last about 10 to 12 days before they die, resulting in an insufficient amount of red blood cells to carry oxygen throughout the body. This is the reason the person feels fatigued, has shortness of breath, and looks pale.. Delayed Growth: Anemia slows the rate of growth because the body’s cells don’t get the oxygen they need to grow. People with sickle cell anemia usually have a smaller build thanother people of the same......

Words: 1013 - Pages: 5

Premium Essay

Sickle Cell

...1 Personal Impact Paper on Sickle Cell Disease Glenda Kessen NUR427 9/8/14 Amy Highland 2 Sickles Cell Anemia is a chronic, serious red blood cell disorder that is lifelong. "It is the most common genetic disease in the United States." (Guyatt, GH 2007). Sickle Cell Disease (SCD) is inherited and results in a decrease of the ability of red blood cells to carry much-needed oxygen through the body. The cells become clogged, due to their crescent shape, which keeps them from delivering oxygen. This can cause unbearable pain, damage to the body organs, and even death. The frequency of the pain episodes can range from several a year to multiple times a day. SCD is caused by hemoglobin S, which is an abnormal type of hemoglobin. When the cells are exposed to low oxygen levels, the Hemoglobin S changes the shape of the red blood cells. Red blood cells are made of marrow that is located inside the large bones of the body. The bone marrow is constantly making new red blood cells to replace the old cells. The life of the normal red blood cell life is about 120 days. Their purpose is to carry oxygen and remove the carbon dioxide, which is a waste product, from the body. Sickle-shaped cells die about ten to twenty days that prevents the bone marrow from making new red blood cells. Ethnicity plays a part in SCD, with African Americans more likely to be affected. Both parents are carriers of the sickle cell trait which is passed on to the child. The child will......

Words: 1423 - Pages: 6

Premium Essay

Sickle Cell

...Sickle cell originated from Africa, India, Mediterranean countries, Saudi Arabia, the Caribbean islands, and South and Central America. Sickle is most commonly found in African Americans, but it can also effect, and be found in all races. Sickle cell anemia is an inherited form of anemia — a condition in which there are not enough healthy red blood cells to carry proper amount of oxygen throughout your body. Many people may have heard about sickle cell and may be aware but many most likely do not know how it exactly works. When looking at sickle cell blood cells you can tell the differences between normal blood cells and sickle cell blood cells. Sickle cell blood cells, are crescent shaped, normal cells are more circular. Sickle cell starts off by people with sickle cell trait have red blood cells that have normal hemoglobin A, and abnormal hemoglobin. The abnormal hemoglobin is called hemoglobin S. People with sickle cell trait have more hemoglobin A than hemoglobin S. They have enough hemoglobin A to help their red blood cells carry oxygen to the body. There are three common types of sickle traits are, Sickle Cell Anemia (SS), Sickle-Hemoglobin C Disease (SC), and Sickle Beta-Plus Thalassemia and Sickle Beta Thalassemia. How exactly does someone get sickle cell? Sickle is a hereditary trait. For example, my aunt has the trait and my mom does not. My sister and I likewise do not have the trait but there is a good possibility that one of our children can. My aunt met......

Words: 524 - Pages: 3

Premium Essay

Sickle Cell Anemia

...Sickle cell anemia is a disease in which the body’s red blood cells become misshapen. The red blood cells, which are normally round with a small indentation in the middle, become hard and crescent-shaped. They can’t fit through the small blood vessels and get stuck in the capillaries and block the blood flow. Oxygenated blood cannot get to the tissues, and this causes severe pain and in some cases, death of the tissues. Prolonged oxygen deprivation can even cause death, depending on the tissue affected, and many victims of sickle cell anemia have a shorter lifespan than people with normal blood cells. Although sickle cell anemia as many symptoms, the most common sign of the disease is severe pain. The pain can be anywhere in the body but is often present in the back and stomach and occurs in episodes. These episodes are called sickling crises. To people who aren’t familiar with sickle cell anemia, the pain of the disease can be confused with ordinary stomach aches or back pain. Normal blood cells live about 120 days, or four months, but since the sickle cells are weak and fragile, they die after only ten or twenty days. This leads to a chronic deficiency in red blood cells. The hands and feet of a sickle cell anemia victim may become swollen due to sickled cells blocking blood flow out of them. Although less common, other symptoms of sickle cell anemia include frequent infections, vision problems, and delayed growth. More severe symptoms may include temporary or......

Words: 1026 - Pages: 5

Premium Essay

Sickle Cell Anemia in First Person

...Sickle Cell Anemia My Sickle Cell Anemia Story My name is Haley Arsenault, I am fifteen years old and living with sickle cell anemia. That sentence sounds so sad, so depressing, as if that is the only way to define my existence. As if my disease defines my entire life when I have been doing everything I can to be a normal teenager, a normal high school student. It’s hard sometimes to distance myself from the disease because I am constantly reminded of it and how it affects my life. My parents, my doctors, my therapist, and my teachers are always concerned about me and it can be overwhelming. My therapist, Kate, is having me write down my “sickle cell anemia story” in my journal as a way to cope….well here goes nothing Kate! I think the best way to start would be the cause of my sickle cell anemia. The disease is strictly an inherited disease, meaning you can only get it from inheriting two genes for sickle hemoglobin, one from each of your parents. It is a lifelong disease with currently no known cure. Neither of my parents have sickle cell anemia but they are both carry the sickle cell trait. This means that they can pass the gene on to me but fortunately they show no symptoms of anemia and live normal lives (well, I wouldn’t say they are exactly “normal” but you know what I mean….). I had a 25 percent chance of being born with two abnormal genes, which happened, and the abnormal genes cause me to have the disorder. My parents and I are African-American which is......

Words: 1846 - Pages: 8

Premium Essay

Sickle Cell Anemia

... 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,......

Words: 778 - Pages: 4

Premium Essay

Sickle Cell

...Sickle-Cell disease is one of the most dangerous disease in the world.It can be inherited by the disorder of the blood and sickle-cell is an abnormal hemoglobin.So the effects can be included to you can get swelling in your body. The causes of sickle-cell anemia is a recessive trait.That means that means sickle-cell came form the blood of your parents and sickle-cell have more to do with you parents passing it on to you.Therefor sickle-cell is an abnormal hemoglobin.People who have sickle cell trait usually have few, if any, symptoms and lead normal lives. However, some people may have medical complications.When both parents have a normal gene and an abnormal gene, each child has a 25% chance of inheriting two normal genes a 50% chance of inheriting one normal gene and one abnormal gene and a 25% chance of inheriting two abnormal genes. The effects of sickle-cell is that you can get a fever , swelling of the feet, hands ,pain in the chest abdomen joints ,nose bleeds and frequent appearances. Approximately one in twenty children with sickle cell disease suffers a strokes, most often between the ages of 3 and 12 years. If a child looks particularly pale, shows a low and decreased tolerance for physical activity, and seems run down this may be a sign that their anemia has become worse. Sickle-cell can be treated by medication used to treat sickle cell anemia included with different vitamins and you need a lot of vitamin A,B,C. You will need to have more than a lot......

Words: 397 - Pages: 2

Premium Essay

Sickle Cell

...What is Sickle Cell Anemia? Sickle Cell Anemia is an inherited blood disorder characterized by chronic anemia and periodic episodes of pain. Sickle Cell Anemia is caused by errors in the genes hemoglobin (a component of red blood cells that is responsible for carrying oxygen within the red blood cell). Sickle Cell Anemia has been in existence for many years. The earliest report of sickle cell anemia can be dated back to Africa. Sickle Cell Anemia is a complex disorder that has evolved over the years but many people will not have a better understanding of what it is unless they carry this disease or personally know someone who may be struggling with it. My goal is to inform the reader of this disease and about the consequences of such. Sickled red cells cannot squeeze tissues of oxygen-carrying blood. The process produces periodic episodes of pain that can ultimately damage tissues and vital organs and can lead to other medical issues. Since sickled red cells through small blood vessels. Contrary, they stack up and cause a blockage which deprives organs and die after 10 to 20 days, they cannot be replaced fast enough. This causes the blood to become short of red blood cells which is called anemia. Sickle Cell Anemia cannot be transmitted through physical contact with another party , it is inherited. For people with the disease have 2 copies of the sickle gene gained from both parents. But many African American may have inherited one copy of the sickle gene from one parent...

Words: 482 - Pages: 2