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Sickle Cell Anemia

Updated January 11, 2022
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Sickle Cell Anemia essay

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Where you aware that sickle-cell anemia is the most common genetic disorder of blood in the world now although that is a fact there is barely any talk about it. Seeing how this disease is so common on a global spectrum it should be discussed more than it is. More people need to know about this disease. They need to know more than the disease is inherited and results in the disorder ofones red blood cells being abnormal and forming a sickle-shaped cell which intime aids in the loss of oxygen and results in many medical problems.

Peopleshould be informed about the disease in detail people should know thephysiology the large role of hemoglobin within the disease the pleiotropy thatleads to its contraction the effect of the disease on the whole body and more. Sickle-cell disease is a genetic disorder caused by an abnormality of hemoglobin. It occurs when there is a point mutation on the b globin gene.

The reason sickled cells result in a lack of oxygen in the blood is due to how stiff the cells are and how they tend to stick to each other and clog up blood vessels. That clogging prevents effective blood flow and that starts to reduce the delivery of oxygen fallon 2013 the inflexibility and the shape of the cell is due to the formation of a polymer that grows in helical fibers that later begin to combine causing the shape of the cell to change waked alotaibi 2016 thissickling of cells is only seen in those who have the sickle-cell disease and notthose who carry the sickle-cell trait.

A person who receives the defective gene from both father and mother develops the disease; a person who receives one defective and one healthy allele remains healthy but can pass on the disease and is known as a carrier or heterozygote erbahor 2013 heterozygous carriers such as myself only have one copy of the sickle hemoglobin are said to not have the disease but instead they have what is known as sickle cell trait waked alotaibi 2016 sickle-cell trait is seen in about 1 in 10 african americans while around 10% of jamaicans are carriers of the trait. 1 in every 500 have thegenotype for sickle-cell anemia lewis 2015 72 000 people are affected by the disease in the united states and most of those people have ancestors who are from africa.

As for carriers of the trait there are about 2 million americans or 1 in 12 african americans who carry it waked alotaibi 2016 the highest frequency of sickle cell disease is found in tropical regions particularly sub-saharan africa tribal regions of india and the middle-east. Migration of substantial populations from these high prevalence areas to low prevalence countries in europe has dramatically increased in recent decades and in some european countries sickle-cell disease has now overtaken more familiar genetic conditions such ashemophilia and cystic fibrosis. In 2015 it resulted in about 114 800 deaths. Sickle-cell is found mostly in africa where the carrier state is said to have genetic advantage jain et al. 2015 5.2% of people in the world carry an unusual hemoglobin variant.

That variant results in 40% of carriers and responsible for80% of hemoglobin disorders due to the genes generality found in certain areas waked alotaibi 2016 the world health organization reported that of sickle-cell cases occur in africa and that about 2% of nigerian newborns were affected by the disease. That gave nigeria a total of 150 000 affected children born every year in just nigeria. While in the united states there is a 1 in 5 000estimate of people affected with the disease. According to the national institutes of health those affected in the us tend to be americans of sub-saharan african descent. About 1 in 500 african- american children in the united states and 1 in every 36 000 hispanic-american children have sickle-cell anemia.

I am a carrier and in my anatomy genetics class I asked my professor what would the chances of my child inheriting the disease if i were to procreate with another carrier of the trait what would be the chances of our babyinheriting the disease we as a class drew out a punnett square and worked itout and our results were that my child would have a 25% chance of having normal blood cells a 50% chance of inheriting the trait and a 25% chance of inheriting the disease. It was said that sickle cell was first discovered in 1846 in the body of an executed runaway slave. In the autopsy they found that there was no spleen present in the body.

In 1910 ernest edward coined the term sickle-cell after noticing abnormal characteristics of red blood cells in a patient of his. Edward reported that he saw peculiar elongated and sickle-shaped cellsin the blood of a man named walter clement noel. Noel came back multiple times over 3 years for what edwards reported to be muscular rheumatism and bilious attacks. Later noel died from pneumonia caused by the disease in 1916. In 1922 the term sickle cell anemia was first used by a man named verne mason.

In the 1930s doctors were able to detect childhood problems that were being caused by sickle-cell. More research was then done on the disease and in the 1950s and a man named vernon ingram was able to describe the molecular change happening in hemoglobin s hbs as opposed to the normal adult hemoglobin a hba padney 2016 but how does the change happen this condition is inherited in an autosomal recessive pattern which means both copies of the gene in each cell have mutations. The parents each carry one copy of the mutated gene but they typically do not show signs and symptoms of the condition. Humans usually have hemoglobin a hemoglobin a2 and hemoglobin f throughout their bodies.

Out of the three hemoglobin f is the most prominent up until about 6 weeks of age after that hemoglobin a begins to take over. But for those who have sickle-cell they have one of their hemoglobin a chains switched for hemoglobin s. In people heterozygous for hbs the polymerization problems are minor because 50% of the allele is able to be produced. The only symptoms carriers could possibly have is if they are deprived of oxygen or really dehydrated pediapress 2012 the sickle-cell disease occurs when the sixth amino acid glutamic acid is replaced by valine to change its structure and function; as such sickle-cell anemia is also known as e6v. Valine is hydrophobic causing the hemoglobin to collapse on itself occasionally the structure is not changed otherwise.

When enough hemoglobin collapses on itself the red blood cells become sickle-shaped. The gene defect is a known mutation of a single nucleotide of the β-globin gene. This is normally a benign mutation causing no apparent effects on the secondary tertiary or quaternary structures of hemoglobin in conditions of normal oxygen concentration. Theallele responsible for sickle-cell anemia can be found on the short arm of chromosome 11 more specifically 11p15.5 erbahor 2013.

Those with sickle-cell anemia usually have a difficult time sleeping. This difficulty of sleeping occurs due to the lack of oxygen they receive. Their saturation levels of oxygen are lower than those who suffer from sleep apnea. Some also tend to have serious medical problems such as stroke and acute chest syndrome. Stroke can result from a progressive narrowing of blood vessels prevents oxygen from reaching the brain. Silent stroke causes no immediate symptoms but is associated with damage to the brain. Silent stroke is probably five times as common as symptomatic stroke.

About 10–15% of children with sickle-cell anemia suffer strokes with silent strokes predominating in the younger patients lewis 2015 but if there is a presence of alpha-globin deletion and higher levels of fetal hemoglobin hbf the red blood cell is altered and it positively influences the health of the person lewis 2015 the disease can cause tissue damage and canoccur all over the body.

Those with the disease can also experience medical complications such as delayed growth and sexual maturation acute and chronic pulmonary dysfunction a septic necrosis of the hip and/or shoulders sickle cellretinopathy dermal ulcers severe and chronic pain and psychosocial dysfunction abrams et al. 1999 some can also suffer from blindness or damage to their major organs such as the lungs kidneys or heart. They also tend to need a lot of blood transfusions waked alotaibi 2016 the disease can lead to various complications including increased risk of severe bacterial infections due to loss of functioning spleen tissue.

These infections are typically caused by encapsulated organisms such as streptococcus pneumonia and hemophilic influenza. Daily penicillin prophylaxis is the most commonly used treatment during childhood with some hematologists continuing treatment indefinitely. Patients benefit today from routine vaccination for s. Pneumonia. Cerebral infarction can also occur in children and cerebral hemorrhaging can occur in adults. Cholelithiasis and cholecystitis may result from excessive bilirubin production and precipitation due to prolonged hemolysis.

Avascular necrosis of the hip and other major joints may occur as a result of ischemia cober phelps 2010 sickle-cell anemia also has a large impact on sexual functioning and ones relationships. They found correlations between sexual activity and support pain and support pain and quality of intimate relationship spouses reaction to pain and patients pain lewis 2015 since i do not experience all the symptoms those with the disease experience on a daily i wanted to know what it is that they do in order to try and treat the disease. There are a few practices that are considered treatments such as the use of preventative antibiotics practice of good hydration immunizations and acquired comprehensive care.

The use ofthis penicillin is meant to ward off potentially fatal infections. Some carriers maintain their pain with the use of over-the-counter oral painkillers known as analgesics. Some might need stronger medicine known as narcotics. More subtle methods for controlling the pain would be relaxation avoidance of extremes of temperature and the application of local warmth. Regular blood transfusions have the potential to decrease formation of hemoglobin s andreduce associated symptoms fallon 2013.

When my mom informed me that i had the trait she told me on the bright side you cannot contract malaria. I was pretty young when she told me that but i wanted to know why that is. Sickle cells are usually poor hosts for malaria parasites. Those with sickle-cell acquire a certain protection from infections such as malaria due to their diseases polymorphisms and molecular mechanisms.

Sickle Cell Anemia essay

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