Sickle cell anemia is a genetic blood disorder that is caused from the abnormal function of hemoglobin. In the case of sickle cells anemia, the hemoglobin molecule in red blood cells is sickle- shaped leading to the blockage of blood flow to blood vessel of the lungs and other organs and therefore a very slow transportation of oxygen. It mostly affects people with African descents with an affected population of 0.25% in African Americans. It results from a mutation at the sixth codon of the beta globin gene (HBB gene) in which the amino acid glutamic acid is substituted for valine, leading to the production of an altered form of hemoglobin S (hbS). Griffiths AJF, Miller JH, Suzuki DT, et al As a chronic inflammatory disease, Sickle cell anemia tends to …show more content…
In the experiment, they used 20 human mouse somatic hybrid cells each of which contained a 17 different subset of human chromosomes. During this experiment, only 10 % of the cells hybrid population is relevant to determine the presence of the Hbb gene on human chromosomes. To identify human chromosomes in each human-mouse hybrid clone, researchers characterized each cell line by two staining techniques which were Giemsa 11 staining and Giemsa trypsin-Hoechst staining. It was found that all human chromosomes that were present in one or more cell lines entirely lacked human β globin gene except for 6, 8,9,11 and 13. And among these chromosomes, only chromosome 11 was positive with a high frequency of Hbb gene in all the hybrid cells lines. And also among two sister clones, 157-BNPT-4 and 157-BNPT-1 which had similar chromosomes it was found that Chromosome 11 was present in 157-BNPT-4 except for 157-BNPT-1 where 157-BNPT-4 contained hemoglobin beta gene. (Deisseroth, A.,
cell affects the beta-goblin subunit and is given the name HBB gene. This gene mutation causes in a change in the beta-goblin structure by replacing glutamic acid with valine in the sixth position in the polypeptide chain. This gene is found on chromosome 11. This change results in an abnormal version of the beta-goblin which is called haemoglobin S (HbS).
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
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.
Discussions in regards to race can be fraught with extreme opinions, to examine this subject in a more dispassionate light it is helpful to first define the terms. Race is distinctly different from ethnicity or culture, but is often combined in both writing and thought. From a biological perspective, the description of race in human populations is meaningless, but examined from a cultural basis it can make an enormous difference to a population’s wellbeing, or survival, based solely on their difference in morphology.
Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change (mutation) in each copy of their HBB gene: one that causes red blood cells to form a "sickle" or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can
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,
Sickle-Cell Anemia is an inherited, chronic blood disease in which the body produces abnormally shaped red blood cells. When the blood cells become crescent/sickle shaped, they are unable to deliver adequate amounts of oxygen to other cells. Also, these unusual “sickle” cells block blood pathways to the limbs and organs, limiting the amount of blood flowing throughout the body. It causes pain, organ damage, and anemia (low blood count). Unfortunately, however, when sufferers are born with this disease, they live life knowing it is incurable.
Sickle cell anemia (SCA) is an autosomal recessive genetic disorder. This missense mutation is characterized by mutant beta globin subunits that tend to stick together (Cummings, 2014). As a result, abnormally shaped red blood cells are produced by this disorder. The erythrocytes are sickle or crescent shaped. Sickling occurs under hypoxic conditions, in which there is insufficient supply of oxygen delivered throughout the body (Sun & Xia, 2013). In order to inherit this monogenic disease, one copy of the sickle globin gene from each parent must be passed on to the offspring (Ashley-Koch,
Sickle Cell Anemia is a genetic disease that causes some red blood cells to take the form of a sickle this form is more easily destroyed which can lead to anemia. The disease is caused by defective hemoglobin. There are different types of hemoglobin, but Hemoglobin A is the primary hemoglobin affected by sickle cell. Hemoglobin A is made up of 2 alpha globin chains and 2 beta globin chains. The beta globin chain becomes misshapen due to a mutation. The mutation in the beta globin chain occurs when the sixth amino acid is valine instead of glutamic acid. Valine is Hydrophobic which has different properties than glutamic acid which is Hydrophilic. When the cell is deoxygenated it combinates with other cells that have the mutation
Sickle cell disease, also known as SCD, is a hereditary blood disorder that takes place due to mutation in the hemoglobin gene that is found in red blood cells. While it is said to have originated in Africa and is mostly predominant in African Americans, sickle cell disease is now common among different ethnic groups all over the world. Sickle cell anemia (HbSS) infects “an estimated 70,000 to 100,000 Americans”(Housman) and accounts for approximately 70% of anemia in the United States. Hemoglobin functions as an oxygen carrying protein as it carries oxygen from the lungs through the arteries and to the rest of the body. In sickle cell disease,
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 affects millions of people worldwide. Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. They don't last as long as normal, round red blood cells, which leads to anemia. Sickle cells contain abnormal hemoglobin that causes the cells to have a sickle shape. Sickle-shaped cells don’t move easily through your blood vessels. They’re stiff and sticky and tend to form clumps and get stuck in the blood vessels. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage. Sickle cell disease is caused by a mutation in the
The sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell have red blood cells that have mostly hemoglobin's, Sometimes these red blood cells become sickle-shaped or crescent shaped and have trouble going through small blood vessels. When sickle-shaped cells block small blood vessels, less blood can get to that part of the body. Tissue that does not get a normal blood flow eventually becomes damaged. This is what causes the problems of sickle cell disease.
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
Even the slightest changes within a single protein may greatly affect the health of a human being and their descendants. Sickle cell blood anemia is a type of blood disorder in which the proteins within the affected person have slightly mutated in order to form a sickle shaped cell. This can cause chronic health problems to a patient that has sickle cell anemia since their sickle shaped blood cells may obstruct their circulatory system. Despite this disease being chronic, a patient can only get sickle cell anemia if they have inherited it. Sickle cell anemia is most commonly inherited by African Americans and Hispanics. In other words, sickle cell anemia is a chronic disease in which a person is inheritably born with some sickle shaped blood