World Health Organization (WHO) has declared that hemoglobinopathies are the most widespread inherited disorder in the world (1). The principal hemoglobin disorder, sickle cell disease (SCD), is a recessively inherited disorder (2,3). Patients with both genes for SCD have the most severe form of the disease, sickle cell anemia (SCA). Following population migration, SCA is now seen throughout the world, as demonstrated by the employment of universal screening programs in the United States of America, in the United Kingdom, and in French overseas territories. It is predicted that human immigration will continue to rise with further globalization (4), the implementation of prevention measures, in low- and middle-income countries will be of direct …show more content…
HbSS) occurs when thymine is substituted for adenine at the sixth amino acid position of the β globin chain of the hemoglobin tetramer (2-α globin and 2-β globin chains) resulting in the production of valine (a hydrophobic amino acid) instead of glutamic acid, which is hydrophilic (12). Although all SCA patients share the same genetic mutation, the clinical course is highly variable between patients (13). The highest sickle cell trait (HbAS) carrier rate is present in families who trace their ancestry to malaria endemic regions (14). In addition to homozygous SCA, other sickle-related hemoglobinopathies occur when HbS is inherited in the heterozygous state with another β globin chain mutation (most commonly HbC, i.e. HbSC) or quantitative defects in β globin production (HbS0thalassaemia and HbS+thalassaemia). Both HbS0thalassaemia and HbSS are clinically severe, while patients with HbSC and HbS+thalassaemia generally have milder phenotypes. Approximately 1 in 500 African American infants born in the United States are affected by SCD (includes SCA and heterozygous sickle hemoglobinopathies), and it is estimated that nearly 100 000 SCD patients live in the United States …show more content…
This condition results in the inability to filter waste products such as bacteria from the blood or impaired sickle cells (17). The spleen functions to remove encapsulated organisms especially in children under the age of two who are incapable of developing antibodies to encapsulated bacteria (18). Infection with encapsulated bacteria such as Streptococcus pneumoniae often advances quickly to mortality, usually within less than 24 hours from the time of onset (10). The spleen is also able to manufacture opsonins, which attach to bacteria and trigger phagocytosis (17). Thereby, children with SCD with functional asplenia also have an impaired immune response
believed that genetically aberrant hemoglobin evolved as a protection against malaria."(2) It has also been said that, "People with a single copy of a particular genetic mutation [sickle cell trait] have a survival advantage. One copy of the mutation confers a benefit." (3) Its quite interesting to find that original purpose of this gene was
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 a disease that is most prevalent in people of African descent along with people of Mediterranean and Middle Eastern origin. This disease is known to affect about 70, 000 Americans and about 2 million people carry the trait (meaning that, they carry a single gene mutation).
Health care disparity with sickle cell Disease Patient’s Thesis Statement. Barriers to racial health care equity include the health care system (insurance, funding), the patient (poor health literacy, fear, mistrust), the community (awareness, advocacy), and the providers (bias, attitudes, expectations, stereotyping). Sickle cell disease (SCD) is the most prevalent genetic hematological disorder worldwide predominantly affecting populations of West African and African Caribbean descent, as well as populations of Asian, Middle Eastern, and Mediterranean origins (Burne, 2008). It affects about 80,000 people in the United States and is the most common inherited blood disorder (O’Cconnor, 2014). It affects 1 in every 500 births of African
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
People with sickle-cell anemia have to take penicillin, get extra vaccines, and get many tests done. Like most people they need to also exercise every day, have a nourishing diet, and get enough sleep every night. Sickle-cell anemia is most common in African Americans, 1 out of 365 African American children are born with two mutated hemoglobin genes or sickle-cell anemia. Sickle-cell anemia is a negative mutation of the hemoglobin gene because it prevents the oxygen from the lungs to the places its needed through the
Sickle cell disease is a chronic condition that a person can inherit from their parents in which it effects the globular structure of the patients red blood cells. A more sickle shaped structure, which can alter a person’s blood flow, replaces the more common globular structure. This impairment in blood flow can lead to blood clots, severe debilitating pain and damage to vital organs such as the liver, kidney and spleen. This disease currently affects over 90,000 people in the United States, with the majority of them being African American and
Scientist explained the difference between Sickle Cell Disease in Africa to Sickle Cell Disease in United States by showing how common this disease is in Africa than it is in the United States. Scientist believe that in Africa there is a fatal form of malaria that occurs in Africa. People who have homozygous for the normal allele for hemoglobin often die of malaria. But people who have sickle cell trait don’t come in contact with the fatal form of malaria. Then more heterozygous live then people with homozygous for the normal allele, and they pass it to their children and their children gets sickle cell disease. Sickle Cell disease is not that common in the United States because people with sickle cell disease often died in early childhood and thus, many people didn’t pass it on to their children. Instead most inheritance from the alleles is from a parent who is heterozygous for the allele to one or more of his children.
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 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.
Sickle Cell Anemia or SCA is a disease in which there is not a lot of healthy red blood cells to transport oxygen throughout the body(Mayoclinic.org). Sickle Cell was discovered a century ago and it as baffled scientist since then because of its unique relationship with malaria, how it affects people based on where they live, how it is relevant to Mendel’s discovery of genetic inheritance and how it affects the future.