Sickle cell anemia (SCA), an autosomal recessive disease, affects about 250,000 people globally every year. 1 Diagnostic tests are fairly simple because the molecular basis of the disease is noncomplex; the disease is caused by a single amino acid substitution. This substitution changes the conformation of hemoglobin resulting in a “sickled” product. This sickled product is “stickier” than the normal red blood cell creating the diseased state. Currently, treatment options are mostly limited to improving symptoms, but there are potential treatments under study that could help at the molecular basis of the disease.
SCA is the main form of sickle cell disease (SCD). 2 SCA is an autosomal recessive disease caused by a mutation in the hemoglobin
…show more content…
2 Diagnosis could occur through several different techniques. The most common technique used is isoelectric focusing (IEF) followed by cellulose acetate electrophoresis, high-performance liquid chromatography (HPLC), and DNA analysis. 1, 2, 3 HPLC and gel electrophoresis can differentiate carriers from diseased-patients. 2 HPLC separates proteins and allows for accurate quantification even at low concentrations. 2 IEF produces high resolution high-throughput screening. 2 One drawback is IEF is not as quantitative as HPLC. 2 IEF is commonly used in the newborn screening. 2 Cellulose acetate electrophoresis is quicker than many techniques but also inaccurate when it comes to differentials. 2 DNA analysis will detect the mutations of the gene variants. 2 There is also targeted mutation analysis that analyzes for the specific mutation. (For example, the glutamic acid to valine substitution at amino acid residue 6, and the glutamic acid to lysine substitution at the same amino acid that is indicative of HbC). 2 Complete blood count (CBC) can be used as a diagnostic tool. 1, 2 A peripheral blood smear detects sickled red blood cells, increased neutrophil ad platelet counts, and the presence of Howell-Jolly bodies indicates hyposplenism. 2 Other tests that could be used include: Kleihauer-Betke test and solubility tests (such as Sickledex). …show more content…
Hydroxyurea works to increase levels of HbF. This competes with the HbS and should result in decreased HbS red blood cells and increased RBC survival. 2, 4 Hydoxyurea has other effects as well that may aid in alleviating symptoms. These include metabolism into nitric oxide (a vasodilator), reduction of vascular inflammation, lower white blood cell count, and lowering platelet count. 2, 4 More research needs to be done, however, there is evidence that hydroxyurea reduces acute painful episodes, acute chest syndrome episodes, decreased need for transfusion, and improved survival. 2 Although, there are risks to hydroxyurea treatment as well. Myelosuppression needs to be closely monitored because decreased white blood cell count is a mechanism of the drug. 2 This risk needs to be weight with the potential benefit before the patient begins hydroxyurea
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,
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.
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 anemia (SCA) is an inherited disease of the blood that is characterized by the production of abnormal hemoglobin S causing the cell to acquire a sickle shape that prevents the smooth flow of blood to a major organ (Shea et al. 2017). The stress is usually caused by fever, infection or cold temperature, which lead to sickle cell crisis caused by hypoxia, dehydration, and acidosis (Barranger, 2017).
Sickle Cell disease also known as SCD is a genetic disease of a person’s red blood cells. The shape of a normal person’s RBC is shaped like a disk. This shape of the red blood cells allows for the flexibility that helps the cells move through blood vessels.
Sickle Cell Anaemia is a heredity disorder in which the red blood cells are affected by altering into a mutated-form of haemoglobin, most commonly at low oxygen levels. The altered-form of haemoglobin are crescent-shape; which are not flexible and can easily block the blood flow in smaller blood vessels and arteries (refer to figure 1). When both alleles inherited carry the sickle cell anaemia disease; 100% of the body’s haemoglobin will mutate into the sickle (crescent) shape. Sickle cell disease is the codominance of only one inherited sickled allele, in which; the carrier can pass the disorder but does not express any significant symptoms or the anaemia itself. Sickle cell anaemia is an autosomal recessive disorder, thus both alleles must
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
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
Sickle cell anemia (SCA) is one of the most prevalent recessive autosomal diseases in the world, affecting approximately 300,000 newborns each year, with the number predicted to rise to 400,000 by the year 2050. It is a disease of the β-globin gene (HBB), whereby a single nucleotide polymorphism (SNP) causes the β6 glutamic acid (Glu) to mutate into valine (Val). The resulting Glu6Val changes the conformation of the red blood cell (RBC) because Val is hydrophobic and Glu is acidic, polar, and has a negative charge. This SNP causes the hemoglobin (Hb) to alter its tertiary structure, forming Hb S which then creates long polymers that alter the RBC’s shape. Many forms of treatment for SCA are being researched, with some of the most promising results coming from gene therapy. Although gene therapy does provide a promising outlook for many diseases, the technique is still under
There has been a high neglect of people suffering from sickle cell anemia due to the lack of knowledge about the disease. Numerous individuals do not know the disease is hereditary nor do they know its symptoms. The paper will analysis the genetic basis of the disease and people who are at high risk of getting it. Moreover, the analysis will entail the treatment and symptoms of the
Essentially, there is an incorrect base- pair change when the Deoxyribonucleic Acid strand are being duplicated, exchanging the “the sixth amino acid from glutamic acid to valine causing the mutated hemoglobin (HbS) to polymerize” or change the shape of each cell (Adams1). The most severe form of Sickle Cell Disease is Hemoglobin SS, in which both parents are carriers of Sickle Cell gene, “SS”, and ultimately reproduce a child that has SCD. In Hemoglobin SC, one parent has the gene “S” while the other has the trait “C”, thus having a milder form of Sickle Cell Disease (Stuart7). Sickle Cell Anemia or Hemoglobin S beta thalassemia is another form of SCD, where one parent has the “S” gene while the other parent has an additional form of anemia or thalassemia (CDC5). Due to the constricting shape of the erythrocytes, the blood cells began to die at an alarming rate causing the body to be deprived of oxygen, creating a number of other health complications. Stroke, neurocognitive functions, infections and the increased risk of death can occur if left untreated. Amongst individuals with SCD, the risk of having a stroke is increased, especially in children (Adams1). Stroke is said to be caused by the constriction of blood vessels and lack of oxygen in the brain that is associated with Sickle Cell Disease. However, because of the stroke increase in
The aim of this experiment was to determine the concentration of haemoglobin in an unknown blood sample using the haemoglobincyanide method and to adapt this method to determine percentage haemoglobin F (foetal haemoglobin) in an unknown sample, and to understand the relevance of these tests in the calculation of Hb concentration.