Sickle Cell Disease History

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 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,

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

The Sickle Cell gene needs to be inhered from both of the parents; otherwise the individual will only carry the Sickle Cell trait. If the sickle cell trait is carried by an individual they can be asymptomatic. This individual can, however, transfer the gene abnormality to any offspring that they have. Sickle Cell Anemia is the most common form of sickle cell disease. It is also the most severe form of the disease. One variation of sickle cell anemia is hemoglobin SC disease and is one of the more common variations. Many times it manifests with a lesser degree of hemolytic anemia (1).

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,

The term sickle cell infection (SCD) depicts a gathering of acquired red platelet issue." Normal red blood cells are shaped like discs or donuts. They are soft and flexible so they can easily move through very small blood vessels"(anonymous, 2015).Individuals with SCD have anomalous hemoglobin, called hemoglobin S or sickle hemoglobin, in their red platelets. Hemoglobin is a protein in red platelets that conveys oxygen all through the body. The most well-known sort is known as, sickle-cell frailty (SCA) and there is A few Types of Sickle Cell Sickness: Hemoglobin SS, Hemoglobin SC, Hemoglobin SD. In the Unified States, a great many people with sickle cell illness (SCD) are of African family line or recognize themselves as dark. About1 out of 13 African American children is

Sickle cell disease is categorized as an autosomal recessive disease. That means in order for one to inherit the disease, they must inherit two recessive alleles for sickle cell disease, or hemoglobin S gene. Having only one recessive allele makes you a carrier. The disorder causes the affected person’s red blood cells to disfigure into a crescent or sickle, which differs from the normal red blood cells that shaped into a doughnut. Sometimes, cells in a sickle shape cannot get through the narrow passageways of the blood vessels as easily as normal red blood cells. This blocks blood from entering and oxygen can’t reach the affected person’s organs. It can also crystallize and block arteries and

In Des Moines, Iowa a 16 year old boy by the name of Isaiah Newsome suffers from a debilitating genetic disorder called sickle cell anemia which affects mostly African Americans in the United States. Everyday Isaiah manages his pain daily by dipping into a bag of pills; blood transfusions are done every three weeks to replace the dead or misshaped cells, and for his weakened bones he has a procedure called an infusion every two months. Sickle cell anemia is a disorder that affects the red blood cell (RBC) causing it to appear under developed in a sickle shape. The shape of the sickle cell impedes on the ability of the hemoglobin (Hgb) to attach on to the RBC which deprives starving tissues and organs in rich oxygenated blood (Jackson, 2014). Some recent advancements in bone marrow transplant has proven to cure some cases of sickle cell disease but because of the risk involved with the procedure, approval to use bone marrow transplant widely has not been implemented (NHLBI 2009). By understanding sickle cell disease and increase funding for research is imperative to move forward aiding the improvements of management and treatments for sickle cell disease (SCD) with a goal of finding a cure for sickle cell.

Individuals with ancestry from the outlier Northern African ethnicities fell into a separate category showing little similarity with West, East and South Africans. The group of individuals with the greatest concentration of Africans and African Americans with and without the Sickle cell disease 55% and 43% respectively, were all from the Yoruba, Bantu, and Mandinka population. A significant percentage of individuals without the Sickle cell disease gene showed high level of Caucasian ancestry than Africans with sickle cell disease, demonstrating that Africans and African Americans with sickle cell disease have less similar genes with Caucasian in their ancestry. The research showed that individuals with Sickle cell disease have a genetic background most similar to that of the Mandinka, Yoruba, and Bantu tribe of West Africa. This is because individuals with Sickle cell disease inherit dual copies of the sickle mutation; a prevalent trait among the African populations. In the United States, sickle cell disease is common among the African American community. African Americans with Sickle cell disease have less Caucasian admixture than African Americans without the disease; their ancestry is most like the Mandinka, Yoruba, and Bantu populations in Western Africa. These observations can be applied to the interpretation of genetic association

Sickle cell anemia is caused by a defect in the gene that controls the production of normal hemoglobin, which is an iron-containing protein in red blood cells that transports oxygen from the lungs to body tissues. The defective gene results in the production of abnormal hemoglobin known as hemoglobin S. If you have the disorder, you inherited one gene for hemoglobin S from each of your parents. The gene is recessive, so if you received a copy of the gene from just one parent, you are a carrier of the sickle cell gene.

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.

This disease is a genetic disease and it is hereditary. It is inherited as an autosomal recessive disease. This means that in order to get the gene you must receive a recessive trait from your mother and your father. The parents could both be heterozygous for the trait and therefore not have the disease, but instead they would both be a carrier. There are only a few ways that the parents could possibly pass the trait. One possibility of having a child with sickle-cell disease is if both parents are heterozygous and they both pass on their recessive allele, (25% chance for offspring to have sickle-cell disease). Another possibility

The symptoms of Sickle Cell Anemia were observed for over five thousand years in Africa. The first reported case of sickle cell anemia however was in 1846, when an autopsy of a runaway slave showed an absence of a spleen. However, it was first discovered by Ernest Irons, an intern of Dr James B Herrick in the United States in 1910. He viewed an anemic patient’s blood under the microscope and observed “elongated and sickle shaped” red blood cells. However, cases of these sickle shaped red blood cells were of African patients only. In 1922, the disease was named “sickle cell anemia” by Vernon Mason. Hahn and Gillespie discovered in 1927 that red blood cells are made into sickle shaped cells by the change in their molecular structure in the absence of oxygen. In 1948, Watson suggested that infants did not show symptoms of sickle cell anemia because of the presence of fetal hemoglobin, HbF. In 1949, it was shown that the disease was inherited and that only people homozygous for the gene got the disease. In 1951, Linus Pauling and his colleagues showed that sickle cell anemia was caused by abnormality in hemoglobin and had a different chemical structure than normal hemoglobin molecules. They proved the change in structure of sickled cells through gel electrophoresis of hemoglobin from normal blood cells and sickled blood cells. They published the paper “Sickle Cell Anemia, a molecular disease” that spread awareness of the disease. The actual amino acid change however was

Sickle cell anemia was first described by J. Herrick in 1910 (1) and he found that the hemoglobin plays important role in transporting oxygen to red blood cell and transporting low oxygen to red blood cell results in the sickle shaped red blood cells. Since sickle shaped red