Essay On Sickle Cell Anemia
Sickle cell anemia
Sickle cell anemia is a disease found right here in America, but in low levels compare to most of the world. The rate for disease is around five times greater in certain places in Africa. Sickle-Cell Anemia is often referred to as the “Negro-Inherited” disease, but that is incorrect. Although African Americans have a high occurrence of Sickle-Cell Anemia (1 in 400 African Americans), many other nationalities suffer from the disease. Sickle-Cell Anemia affects 8 out of 100,000 people worldwide this is because the potentially fatal disease sickle cell anemia can also work as a sort of vaccination for another disease called malaria. Sickle cell anemia is an inherited chronic disease of the blood. In order for this disease …show more content…
sickle cell to be inherited one gene form each parent to have it. A person who receives a gene for Sickle Cell Anemia from one parent and a normal gene from the other has a condition called sickle cell trait. Sickle cell trait produces no symptoms or problems for most people. Sickle Cell Anemia can be neither contracted nor passed on to another person. The severity of sickle cell disease varies greatly. Some people with sickle cell disease live their life almost as normal as people without the disease. Others are less fortunate, and can suffer from a variety of conditions.
Sickle Cell Anemia is caused by a change in the chemical composition of the protein hemoglobin, which is responsible for delivering oxygen throughout our bodies. Normal hemoglobin is found as a round shape, and is composed of four proteins – two alpha chains and two beta chains. The change that causes Sickle Cell Anemia occurs when an amino acid called valine is substituted for glutamic acid in both of the beta chains. This change in the composure of hemoglobin causes the shape to change when under certain conditions. Two of these conditions are low oxygen and dehydration. The hemoglobin of a person with Sickle Cell Anemia then becomes elongated and curved, hence the name sickle cell. When this happens many problems can occur, primarily blood clotting which leads to a lack of oxygen in body tissues. Other negative effects of Sickle Cell Anemia are a weakened heart because it is constantly overworked. In addition, bone marrow is affected and bones become softer than usual. While there is no cure for Sickle Cell Anemia, there is treatment. The primary goal is to reduce the frequency of the Sickle Cell Anemia crisis episodes and maintain enough red blood cells to keep body tissues healthy. Adequate hydration, oxygenation, bone marrow stimulation, and blood transfusions are commonly used to treat Sickle Cell Anemia.
In the United States, about one in five hundred African Americans develop sickle cell anemia. In Africa, about one in one hundred individuals develop the disease. Why is the frequency of a potentially fatal disease so much higher in Africa? The answer is related to another potentially fatal disease, malaria. Malaria is characterized by chills, fever, vomiting, and severe headaches. Malaria is caused by a parasite called Plasmodium that is transmitted to humans by a mosquito.
When malaria parasites invade the bloodstream, the red cells that contain defective hemoglobin because of Sickle Cell Anemia become sickled and die. This effectively protects the individual with Sickle Cell Anemia from an infection of malaria. This explains why areas if the world with a high rate of malaria, such as Africa, also have a high rate for Sickle Cell Anemia.
This chronic blood disease is when the body produces abnormal red blood cell shapes. The blood cells become shaped like a crescent or sickle. When this accrues, the blood is unable to produce the right amount of oxygen to the other cells in the body. The sickle cells block blood passageway to the limbs and organs and that lessen the blood flow throughout the body. This causes pain, organ damage, and anemia. Unfortunately, this disease is incurable.
In the sickle cell anemia, the 11th chromosome is affected and it causes the disorder in the blood ( http://www.ncbi.nlm.nih.gov/pubmed/20981037). This disease is autosomal, and not sex-related. This disease is also common in men and women. The different symptoms of sickle cell anemia are hand-foot syndrome, fatigue, shortness of breath, rapid heart rate, delayed growth, and puberty. There is also susceptibility to infection, ulcers on the lower legs, jaundice, attacks of abdominal pain, weakness, joint pain, fever vomiting, bloody urination, excessive thirst, chest pain, and decreased fertility If both parents have Sickle Cell Trait, there is a 50% (or 1 in 2) chance that any child of theirs also will have SCT, if the child inherits the sickle cell gene from one of the parents. Such children will not have symptoms of SCD, but they can pass SCT on to their children.
These symptoms may not appear until four months after birth. The good thing is that there are treatments that can delay sickle anemia longer. One of the treatments is called hydroxyurea. Hydroxyurea is a drug that decreases the number of nucleotides of defective hemoglobin. Sulphasalazine is another drug. This drug works by reducing the number of “sticky” molecules on red blood cells in sickle-cell anemia. Poloxamer 108 is another drug that shortens the length of the painful episodes in sickle cell anemia. This drug helps by improving blood flow through your vessels to surround the painful areas. The bad thing is that these drug help to cover up the disease and to slow down the extent but it is not a cure. The goal of treatment is to manage and to control the symptoms. Treatment is also to limit the crises in sickle cell. People with sickle cell need treatment all the time even if they are not having painful crises. Folic acid needs to be taken, because it makes red blood cells. The treatments that are needed for patients with the trait are pain medication and plenty of fluids also blood transfusions are needed to prevent strokes from accruing. The treatment that I have covered in this paragraph is basic treatment for sickle cell.
When a patient has complications of sickle cell anemia, other treatments must be taken depending on how server it is. When a patient gets kidney disease, they will need kidney dialysis or even a kidney transplant. Patient will need drug rehabilitation and counseling for psychological complications. They also can develop gallstone disease in which they will need to remove there gallbladder. Some patients might need hip replacement due to avascular necrosis. Avascular necrosis is when the bones die because there is a poor blood supply to that area. Other treatment is surgery for persistent, painful erections, eye surgery (when they start developing eye problems). Bone marrow or stem cell transplants can cure sickle cell anemia. However, they are current not an option for most patients. Sickle cell anemia patients are often unable to find well-matched donors (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001554/).
The life span of sickle cell patients in the pass have been around the ages of 20 and 40. In recent years with more knowledge and treatment, people with sickle cell live well beyond their 50s. For the cause of the Sickle Cell Disease, there has been much research going on in the area of gene therapy. Labs around the world are trying to fix the basic genetic defect, by placing the correct amino acid in the hemoglobin before or shortly after birth. This method would result in the cure of the root of the problem. Currently researchers are finding a safe way to perform this method. To try to ease the pain caused by Sickle Cell Disease, a substance that can prevent red blood cells from sickling without causing harm to other parts of the body, hydroxyurea was found to reduce the frequency of severe pain, acute chest syndrome, and the need for blood transfusions in adult patients with sickle cell disease. Droxia, the prescription form of hydroxyurea, was approved by the FDA in 1998 and is now available for adult patients with sickle cell anemia. Studies will now be conducted to determine the proper dosage for children. The Sickle Cell Disease is a state of suffering, yet it is not as serious as it used to be, where children with the disease were not expected to live through childhood. Now with aggressive treatments, victims’ lives are prolongs and improving its quality; and with the researching completed, a full cure of the disease can be possible.
Today, basic theory of gene therapy is that normal gene is inserted into genome to replace disease caused gene. The gene by itself, however, is almost impossible to get the target cell. To deliver gene successfully, a carrier called vector is necessary and virus is good for delivering gene, because virus genetically approaches human genes. Virus, however, can have a potential toxic or respond a massive immune system. In fact, some people died because of that. For this reason, scientists tried to find replacement of virus as vector. The most common virus for vector is adenovirus that causes cold. Changing shape of red blood cells causes sickle cell anemia. Because the blood cell is sickle, abnormal hemoglobin called HbS is produced; as a result, the blood cell does not carry enough O2. This disease is possible to cure by gene therapy. Gene red blood cell with normal hemoglobin is inserted into the stem cell by packing them inside virus and this stem cell became regular red blood cell A. This stem cell is transplanted the marrow and produces enough Hb A in regular cell to prevent polymerization HbS in sickle cell. To success this treatment, many stem cells are copied and then transplanted.
A blood test can check for hemoglobin S, the defective form of hemoglobin missing that underlies sickle cell anemia.
In the United States, this blood test is part of routine newborn screening done at the hospital. However, older children and adults can be tested, too. In adults, a blood sample is taken from a vein in the arm. In young children and babies, the blood sample is usually taken from a finger or heel. The sample is then sent to a laboratory, where it is screened for hemoglobin S. If the screening test is negative, there is no sickle cell gene present. If the screening test is positive, further tests will be done to determine whether one or two sickle cell genes are present. People who have one gene sickle cell trait have a small percentage of hemoglobin S. People with two genes sickle cell disease have a much larger percentage of the defective hemoglobin. Sickle cell anemia can be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother's womb (amniotic fluid) to look for the sickle cell gene. If you or your partner has been diagnosed with sickle cell anemia or sickle cell trait, ask your doctor about whether you should consider this screening. Ask for a referral to a genetic counselor that can help you understand the risk to your
baby.
Sickle Cell Anemia is nature’s version of irony. On one side of the coin is the answer to malaria, a disease that has plagues regions of the world for centuries; but sadly, the other side of the coin is possibly death. Sickle-Cell Anemia should start to be noticed, if not throughout the entire world, then at least America. The more awareness there is for this disease, the fewer death rates we will have as a country. Despite having so many opportunities of Sickle Cell testing, our society still neglects the idea of testing for an “unimportant, less concerned disease.” In addition, the increasing price and frequency of treatments for this disease prevents people from having necessary health insurance to cover it.
In doing a research paper I have learn so much about sickle cell anemia. I have been bless that my family did not have this in their bloodline. For those who do have it I just pray that they find some type of cure to help the blood cells develop to a normal shape in order to live well and without any compaction that affects their life. It is sad to know the pain that people with sickle cell go through and that they constantly have to go for all different types of treatment. I truly enjoyed learning about this so that when I have to encounter a person that is suffering from the disease I can talk and have a comforting word for the person.
Biography
1.) J Hum Genet. 2011 Jan;56(1):29-33. Epub 2010 Oct 28.Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon.Haber M, Platt DE, Khoury S, Badro DA, Abboud M, Tyler-Smith C, Zalloua PA.
Source: Medical School, The Lebanese American University, Beirut, Lebanon. 2.) A.D.A.M. Medical Encyclopedia. Sickle cell anemia
Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease Last reviewed: February 28, 2011.
Sickle cell anemia is a disease found right here in America, but in low levels compare to most of the world. The rate for disease is around five times greater in certain places in Africa. Sickle-Cell Anemia is often referred to as the “Negro-Inherited” disease, but that is incorrect. Although African Americans have a high occurrence of Sickle-Cell Anemia (1 in 400 African Americans), many other nationalities suffer from the disease. Sickle-Cell Anemia affects 8 out of 100,000 people worldwide this is because the potentially fatal disease sickle cell anemia can also work as a sort of vaccination for another disease called malaria. Sickle cell anemia is an inherited chronic disease of the blood. In order for this disease …show more content…
sickle cell to be inherited one gene form each parent to have it. A person who receives a gene for Sickle Cell Anemia from one parent and a normal gene from the other has a condition called sickle cell trait. Sickle cell trait produces no symptoms or problems for most people. Sickle Cell Anemia can be neither contracted nor passed on to another person. The severity of sickle cell disease varies greatly. Some people with sickle cell disease live their life almost as normal as people without the disease. Others are less fortunate, and can suffer from a variety of conditions.
Sickle Cell Anemia is caused by a change in the chemical composition of the protein hemoglobin, which is responsible for delivering oxygen throughout our bodies. Normal hemoglobin is found as a round shape, and is composed of four proteins – two alpha chains and two beta chains. The change that causes Sickle Cell Anemia occurs when an amino acid called valine is substituted for glutamic acid in both of the beta chains. This change in the composure of hemoglobin causes the shape to change when under certain conditions. Two of these conditions are low oxygen and dehydration. The hemoglobin of a person with Sickle Cell Anemia then becomes elongated and curved, hence the name sickle cell. When this happens many problems can occur, primarily blood clotting which leads to a lack of oxygen in body tissues. Other negative effects of Sickle Cell Anemia are a weakened heart because it is constantly overworked. In addition, bone marrow is affected and bones become softer than usual. While there is no cure for Sickle Cell Anemia, there is treatment. The primary goal is to reduce the frequency of the Sickle Cell Anemia crisis episodes and maintain enough red blood cells to keep body tissues healthy. Adequate hydration, oxygenation, bone marrow stimulation, and blood transfusions are commonly used to treat Sickle Cell Anemia.
In the United States, about one in five hundred African Americans develop sickle cell anemia. In Africa, about one in one hundred individuals develop the disease. Why is the frequency of a potentially fatal disease so much higher in Africa? The answer is related to another potentially fatal disease, malaria. Malaria is characterized by chills, fever, vomiting, and severe headaches. Malaria is caused by a parasite called Plasmodium that is transmitted to humans by a mosquito.
When malaria parasites invade the bloodstream, the red cells that contain defective hemoglobin because of Sickle Cell Anemia become sickled and die. This effectively protects the individual with Sickle Cell Anemia from an infection of malaria. This explains why areas if the world with a high rate of malaria, such as Africa, also have a high rate for Sickle Cell Anemia.
This chronic blood disease is when the body produces abnormal red blood cell shapes. The blood cells become shaped like a crescent or sickle. When this accrues, the blood is unable to produce the right amount of oxygen to the other cells in the body. The sickle cells block blood passageway to the limbs and organs and that lessen the blood flow throughout the body. This causes pain, organ damage, and anemia. Unfortunately, this disease is incurable.
In the sickle cell anemia, the 11th chromosome is affected and it causes the disorder in the blood ( http://www.ncbi.nlm.nih.gov/pubmed/20981037). This disease is autosomal, and not sex-related. This disease is also common in men and women. The different symptoms of sickle cell anemia are hand-foot syndrome, fatigue, shortness of breath, rapid heart rate, delayed growth, and puberty. There is also susceptibility to infection, ulcers on the lower legs, jaundice, attacks of abdominal pain, weakness, joint pain, fever vomiting, bloody urination, excessive thirst, chest pain, and decreased fertility If both parents have Sickle Cell Trait, there is a 50% (or 1 in 2) chance that any child of theirs also will have SCT, if the child inherits the sickle cell gene from one of the parents. Such children will not have symptoms of SCD, but they can pass SCT on to their children.
These symptoms may not appear until four months after birth. The good thing is that there are treatments that can delay sickle anemia longer. One of the treatments is called hydroxyurea. Hydroxyurea is a drug that decreases the number of nucleotides of defective hemoglobin. Sulphasalazine is another drug. This drug works by reducing the number of “sticky” molecules on red blood cells in sickle-cell anemia. Poloxamer 108 is another drug that shortens the length of the painful episodes in sickle cell anemia. This drug helps by improving blood flow through your vessels to surround the painful areas. The bad thing is that these drug help to cover up the disease and to slow down the extent but it is not a cure. The goal of treatment is to manage and to control the symptoms. Treatment is also to limit the crises in sickle cell. People with sickle cell need treatment all the time even if they are not having painful crises. Folic acid needs to be taken, because it makes red blood cells. The treatments that are needed for patients with the trait are pain medication and plenty of fluids also blood transfusions are needed to prevent strokes from accruing. The treatment that I have covered in this paragraph is basic treatment for sickle cell.
When a patient has complications of sickle cell anemia, other treatments must be taken depending on how server it is. When a patient gets kidney disease, they will need kidney dialysis or even a kidney transplant. Patient will need drug rehabilitation and counseling for psychological complications. They also can develop gallstone disease in which they will need to remove there gallbladder. Some patients might need hip replacement due to avascular necrosis. Avascular necrosis is when the bones die because there is a poor blood supply to that area. Other treatment is surgery for persistent, painful erections, eye surgery (when they start developing eye problems). Bone marrow or stem cell transplants can cure sickle cell anemia. However, they are current not an option for most patients. Sickle cell anemia patients are often unable to find well-matched donors (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001554/).
The life span of sickle cell patients in the pass have been around the ages of 20 and 40. In recent years with more knowledge and treatment, people with sickle cell live well beyond their 50s. For the cause of the Sickle Cell Disease, there has been much research going on in the area of gene therapy. Labs around the world are trying to fix the basic genetic defect, by placing the correct amino acid in the hemoglobin before or shortly after birth. This method would result in the cure of the root of the problem. Currently researchers are finding a safe way to perform this method. To try to ease the pain caused by Sickle Cell Disease, a substance that can prevent red blood cells from sickling without causing harm to other parts of the body, hydroxyurea was found to reduce the frequency of severe pain, acute chest syndrome, and the need for blood transfusions in adult patients with sickle cell disease. Droxia, the prescription form of hydroxyurea, was approved by the FDA in 1998 and is now available for adult patients with sickle cell anemia. Studies will now be conducted to determine the proper dosage for children. The Sickle Cell Disease is a state of suffering, yet it is not as serious as it used to be, where children with the disease were not expected to live through childhood. Now with aggressive treatments, victims’ lives are prolongs and improving its quality; and with the researching completed, a full cure of the disease can be possible.
Today, basic theory of gene therapy is that normal gene is inserted into genome to replace disease caused gene. The gene by itself, however, is almost impossible to get the target cell. To deliver gene successfully, a carrier called vector is necessary and virus is good for delivering gene, because virus genetically approaches human genes. Virus, however, can have a potential toxic or respond a massive immune system. In fact, some people died because of that. For this reason, scientists tried to find replacement of virus as vector. The most common virus for vector is adenovirus that causes cold. Changing shape of red blood cells causes sickle cell anemia. Because the blood cell is sickle, abnormal hemoglobin called HbS is produced; as a result, the blood cell does not carry enough O2. This disease is possible to cure by gene therapy. Gene red blood cell with normal hemoglobin is inserted into the stem cell by packing them inside virus and this stem cell became regular red blood cell A. This stem cell is transplanted the marrow and produces enough Hb A in regular cell to prevent polymerization HbS in sickle cell. To success this treatment, many stem cells are copied and then transplanted.
A blood test can check for hemoglobin S, the defective form of hemoglobin missing that underlies sickle cell anemia.
In the United States, this blood test is part of routine newborn screening done at the hospital. However, older children and adults can be tested, too. In adults, a blood sample is taken from a vein in the arm. In young children and babies, the blood sample is usually taken from a finger or heel. The sample is then sent to a laboratory, where it is screened for hemoglobin S. If the screening test is negative, there is no sickle cell gene present. If the screening test is positive, further tests will be done to determine whether one or two sickle cell genes are present. People who have one gene sickle cell trait have a small percentage of hemoglobin S. People with two genes sickle cell disease have a much larger percentage of the defective hemoglobin. Sickle cell anemia can be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother's womb (amniotic fluid) to look for the sickle cell gene. If you or your partner has been diagnosed with sickle cell anemia or sickle cell trait, ask your doctor about whether you should consider this screening. Ask for a referral to a genetic counselor that can help you understand the risk to your
baby.
Sickle Cell Anemia is nature’s version of irony. On one side of the coin is the answer to malaria, a disease that has plagues regions of the world for centuries; but sadly, the other side of the coin is possibly death. Sickle-Cell Anemia should start to be noticed, if not throughout the entire world, then at least America. The more awareness there is for this disease, the fewer death rates we will have as a country. Despite having so many opportunities of Sickle Cell testing, our society still neglects the idea of testing for an “unimportant, less concerned disease.” In addition, the increasing price and frequency of treatments for this disease prevents people from having necessary health insurance to cover it.
In doing a research paper I have learn so much about sickle cell anemia. I have been bless that my family did not have this in their bloodline. For those who do have it I just pray that they find some type of cure to help the blood cells develop to a normal shape in order to live well and without any compaction that affects their life. It is sad to know the pain that people with sickle cell go through and that they constantly have to go for all different types of treatment. I truly enjoyed learning about this so that when I have to encounter a person that is suffering from the disease I can talk and have a comforting word for the person.
Biography
1.) J Hum Genet. 2011 Jan;56(1):29-33. Epub 2010 Oct 28.Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon.Haber M, Platt DE, Khoury S, Badro DA, Abboud M, Tyler-Smith C, Zalloua PA.
Source: Medical School, The Lebanese American University, Beirut, Lebanon. 2.) A.D.A.M. Medical Encyclopedia. Sickle cell anemia
Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease Last reviewed: February 28, 2011.