Introduction Sickle cell disease (SCD) is an autosomal recessive disease that is common in African Americans. This disease arises from a single base-pair substitution of thymine for adenine and this makes valine in its place of glutamine in the sixth position of the Beta-globin molecule. When this swap occurs in a homozygous state and this is the sickle cell disease. Clinical signs result from polymerization of the abnormal haemoglobin and the sickling of cells. (Thompson, 2010) The case study Bölke and Scherer carried out a study (2012) about 19 year old black man with a three year history of SCD who was taken to the hospital showing symptoms such as shortness of breath, severe abdominal and joint pain. Few days after leaving the hospital, a space-occupying epidural hematoma started to form, most likely cause thought to be by the expansion of hematopoietic tissue and disruption of the bony margins with bleeding into the epidural space. Even though he had been taken into emergency care, the teenager eventually died. Inheritance pattern In people of West African ancestry such as the man in the study typically have SCD/haemoglobin C disease. This is a type of SCD that results from the inheritance of one HbS gene through one gene for HbC and this type of SCD is the most common abnormal haemoglobin gene in West Africa. The inheritance pattern for SCD is not complicated because if both parents hold one abnormal gene, there is a 1 in 4 possibility that any offspring will
Sickle Cell Disease is an illness that affects people all across the globe. This paper will give a description of the sickness through the discussion of the causes, symptoms, and possible cures. Sickle Cell Disease (SCD) is a "group of inherited red blood cell disorders."(1) These disorders can have various afflictions, such as pain, damage and a low blood count--Sickle Cell Anemia.
Sickle cell anemia is a hereditary disorder that mostly affects people of African ancestry, but also occurs in other ethnic groups, including people who are of Mediterranean and Middle Eastern descent. More than 70,000 Americans have sickle cell anemia. And about 2 million Americans - and one in 12 African Americans - have sickle cell trait (this means they carry one gene for the disease, but do not have the disease itself).
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
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,
When Malaria is present and infects red blood cells, parasites can infect cells carrying defective hemoglobin which may result in death. Allele frequency changes over time depending on the pressures or circumstances facing a particular population. African populations are especially impacted by both malaria and sickle cell anemia. Depending on the impacted population, allele frequency often shifts and well suited organisms are likely to survive and allele frequencies can increase. When a population is effected by disease or other circumstances, allele frequency may decrease or change. HbA (normal hemoglobin) and HbS (defective hemoglobin) have varying frequencies and while the HbS gene is present in populations it is
This mutation paper is to give information on the Sickle Cell disease. This is a negative disease to have because the Sickle Cell Disease decreases the health of the person that has the disease and limits what they can and cannot do. Sickle Cell Disease is a red blood cell disease that causes ab normal hemoglobin to from in the veins. Hemoglobin is the protein that carries oxygen throughout the body to help with the respiratory system. The cause of the genetic mutation is inheritance or getting the disease from the parents the disease is found on chromosome 13 while the hemoglobin is still in beta phase on gene HB A. The disease typically shows symptoms within the first 5 to 6 months of birth and being diagnosed with Sickle Cell Disease. The symptoms include painful swelling on the hands and feet, and Jaundice, which causes a white color to form under the eyes, and turns the skin color yellow.
It has always been assumed that genetics and lifestyle play a major role in the presence of health disparities and health care issue that affects African-Americans. This paper provides a historical background to a key disease more prevalent in the African American community, Sickle Cell Anemia, the history behind the disease, genetic mechanisms that influences once probability of inheritance and in-depth treatment on how to manage, prevent and sustain a healthy lifestyle when dealing with sickle cell anemia. Sickle cell anemia is a hereditary disease that alters important aspects of the body physiologically and can be inherited via genes. Sickle cell disease (SCD) was first identified in 1910 and has existed in the continent of Africa for five
Sickle cell disease (SCD) occurs in 1 out of every 365 African American births compared to 1 out of 16,000 Hispanic-American births (1). SCD is a group of red blood cell disorders in which patients have a sickle or moon-shaped red blood cell due to an abnormal S hemoglobin. While sickle cell disease is relatively rare in American births, this is an alarming statistic among people of Sub-Saharan (west and central) African descent. An interesting fact is that SCD occurs more often among people from parts of the world where malaria is or was common, such as Sub-Saharan Africa (1). In addition, it is believed that people who carry the sickle cell trait are less likely to have
The sickle cell disease affects about 100,000 people in the America. The most common ethnic group the sickle cell anemia is seen in is African Americans and Hispanics. Approximately one in every ten African American and one in every one hundred Hispanic Americans have the sickle cell trait. Approximately two million people have the sickle cell trait in America. Approximately one in five- hundred African Americans and one in one thousand to one thousand and four hundred Hispanic-Americans have sickle cell disease. No universal cure has been found for sickle cell anemia (“Facts About Sickle Cell Trait And Disease,”n.d.). Sickle cell anemia affects many Americans and a universal cure needs to be found.
Sickle Cell Disease or also widely known as Sickle Cell Anemia is a genetic mutation caused in red blood cells destroys its own cells within and reshaping the cell wall resembling crescent or sickle shape; getting its name of the sickle cell disease. These sickled shaped cells attempt to perform its normal function of circulating oxygenated and deoxygenated RBC and gets lodged in small vessels causing vaso-occlusion. Where vaso-occlusive take effect, rest of the body is not receiving oxygen becoming oxygen deprived results in acute and chronic pain and organ damage (Valerie Mann-Jiles, 2015). This disease a lifelong condition affecting not just the person carrying the disease but the whole family. Treating this disease
Sickle Cell Disease, also referred to as SCD, is a genetically inherited disease that causes abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in red blood cells. This disease currently affects about 90,000-100,000 Americans, a majority being African-American. Because SCD is genetically inherited, it is not contagious. It is inherited when both parents of a child carry the sickle cell trait, also called SCT. SCT and SCD are not the same. In SCT, the person is generally healthy and does not endure what one with SCD does, they are simply a “carrier” of the sickle cell trait. SCD cannot be inherited if only one parent is a carrier. If both parents are carriers of the sickle cell trait, the child still only has a 25% chance of being born with sickle cell. They have a 50% chance of being born with a single trait, making them a carrier, and a 25% chance of being born with normal hemoglobin. About 1 in 13 African-American babies are born as a carrier and 1 in 365 are born with the disease.
Sickle Cell Disease occurs most commonly in individuals whose families descend from West Africa, South or Central America (particularly Panama), Caribbean islands, Mediterranean nations, (for example, Turkey, Greece, and Italy), India, and Saudi Arabia. In the United States, it’s estimated that Sickle cell affects between 70,000–100,000 individuals, predominately African
Thousands of years ago, a genetic mutation occurred in people from the Mediterranean basin, India, Africa, and the Middle East. As the Malaria Epidemic attacked people of these countries, carriers of the defective hemoglobin gene survived. Carrying one defective gene means that a person has a sickle cell trait. Two parents with the trait will produce a child with sickle cell anemia. People of these countries migrated and spread to other areas. In the Western Hemisphere, where malaria is not much of a problem, having the abnormal hemoglobin gene has lost its advantage. Any child born from parents that each has the trait will be born with the 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.
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.