Hemoglobin Lab Report

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.

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 trait is the heterozygous state of the sickle cell gene, also called sickle hemoglobin (HbS) (DynaMed, 2015). The sickle hemoglobin (HbS) is an abnormal hemoglobin resulted from an atypical mutation of a normal hemoglobin. Heterozygous individuals are carriers of the sickle cell trait, and they are usually asymptomatic (DynaMed, 2015). There are no interventions or referral indicated for infants. The risk factors for sickle cell gene include ancestry from Africa, Caribbean, Central and South America, India, Mediterranean, and the Middle East (DynaMed, 2015). Although Sickle cell trait is a benign condition, studies have found that under extreme conditions such as severe

Binding of CO to hemoglobin is greatly affected to anemic and smoking individuals. Hemoglobin plays a major role in our body to transport oxygen. Since hemoglobin has a higher affinity for oxygen, it binds to an oxygen molecule and increases its oxygen concentration. Thus, when the blood cells are at a different part of the body where the oxygen concentrations are low, the oxygen will leave the hemoglobin and diffuse into the cells. However, carbon monoxide has a 250 fold greater affinity than oxygen. So, when CO enters the blood from the lungs, CO would bind with hemoglobin instead of oxygen, and block the blood’s ability to carry oxygen to the cells throughout the body. In a normal healthy individual, the total carboxyhemoglobin (COHb) complex is 1% or less, whereas, smoking increases COHb to 3-8% and further to 15% for chain smokers. When smoking a cigarette, CO binds to hemoglobin and displaces to

Sickle cell disease (SCD) is an autosomal recessive disease that is common in African Americans. This disease arises from a single base-pair substitution of thymine for adenine and this makes valine in its place of glutamine in the sixth position of the Beta-globin molecule. When this swap occurs in a homozygous state and this is the sickle cell disease. Clinical signs result from polymerization of the abnormal haemoglobin and the sickling of cells. (Thompson, 2010)

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

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

Sickle cell disorders are a group of inherited disorders where adult haemoglobin (HbA) is replaced by sickle haemoglobin (HbS) due to the substitution of glutamic acid by valine at the position 6 of the beta globin chains3. In addition, these disorders can be of various conditions, however, we will mostly on the two most known conditions which are sickle cell anaemia (HbSS) and sickle cell trait (HbAS). The other conditions are those where sickle cell disorders is associated with other disorders such as beta thalassaemia or haemoglobin C (HbSC). Sickle cell anaemia refers to the form of sickle cell disorders where the patient receives a copy of the mutated gene from each of his parents (homozygosity) whereas in sickle cell trait, the individual only gets one copy of the mutated gene from one his parents

Sickle cell anaemia (SCA) is a hereditary disease that affects the shape and characteristics of the red blood cells; as a consequence, it leads to a chain of lifelong blood disorders. SCA is considered to be a type of incomplete dominance trait of the defective hemoglobin (Hb) molecule, which is the molecule that is responsible for the gas exchange in the blood. Consequently, due to its incomplete dominance, having the SCA trait does not imply that the patient, has the disease, rather it indicate that the person is a carrier of the SCA gene [ ].

Bilirubin, a product of heme catabolism becomes a significant interferant for creatinine estimation in patients suffering from jaundice especially the pediatric patients. Studies have shown that bilirubin at its low and high concentrations causes negative and positive interference respectively, in the estimation of creatinine by Jaffe’s method. In Jaffe’s method, bilirubin gets converted to biliverdin under alkaline conditions. Biliverdin thus formed has λmax at 630 nm which significantly decreases the absorbance of the creatinine–picrate complex observed at 520 nm, thus resulting in negative interference at its lower concentrations (10, 11). Since, during in any chemical reaction, substrates and chromogen react on mole to mole basis, there is always a specific upper limit for the substrate where it obeys Beer’s Law. As the absorption maxima (λmax) of bilirubin (510 nm) almost coincides with that of creatinine-picrate complex of 520 nm, hence, at higher concentrations of serum bilirubin, where the concentration of either NaOH and/or picrate becomes a limiting factor, the presence of unreached / free bilirubin will result in positive interference by it in creatinine estimation by the Jaffe’s method

Sickle Cell Anemia or (SCD) is the most common genetic disorder across the entire world it is an inherited genetic condition giving to you by both your mother and father that affects your hemoglobin. There is a mutation in the gene that tells your body to make hemoglobin (a red iron rich compound that gives blood its red color). There are over 600 million hemoglobin molecules in each red blood cell (Brown, M. (2012)). The purpose of hemoglobin is allow red blood cells to carry carbon dioxide, and oxygen from your lungs to all parts of the body. People with sickle cell disease inherit the s gene from abnormal hemoglobin from both parents, you usually find out you have this disease at birth. A blood test is giving to all newborns to look for the s gene known as the sickle cell gene.

6a. Chain B and Chain D in the Sickle cell Anemia Hemoglobin contain the valine amino acid substitution. The substitution is found in the beta chains.

Sickle cell disease is a curse or a blessing, the disease is most common among African Americans. The rate of this disease is more frequent in Africa than here in the U.S. The reason for this is because sickle cell is immune from another disease called malaria, a mosquito-borne disease cause by a parasite. Sickle cell causes red blood cells to change and become a croissant-shaped, it occurs when inherited by two sickle cell gene, one from each parent. The major problem of sickle cell is hemoglobin. Hemoglobin is a protein in red blood cells that carries out oxygen. Hemoglobin with bound carbon dioxide and hydrogen ions is carried in the blood back to the lungs, where it releases the hydrogen ions and carbon dioxide and rebinds oxygen. (2002,

In week 7, I was in the biochemistry and serology department. One of the tests I learned in the biochemistry department is the bilirubin blood test. Bilirubin is a yellow pigment which is produced during the breakdown of the heme. An excess bilirubin which is caused by the excessive haemolysis of the red blood cells (RBCs) and liver damage leads to a condition known as jaundice which causes the yellowish discolouration of the skin. This test can be done to determine the cause of jaundice and diagnose hemolytic and liver diseases. The test is performed by centrifuging the blood collected in a capillary tube using the micro hematocrit centrifuge. Then, the capillary tube is placed into a bilirubinometer, a device which uses the principles of

Wu were able to isolate genomic DNA from peripheral blood leukocytes of individuals. Wu states sickle cell anemia is the “prototype of a genetic disease caused by a single base-pair mutation and A T transversion in the sequence encoding codon 6 of the human -globin gene” (Wu 1989). Generally, a homozygous sickle cell anemia is when “the substitution of a single amino acid in the -globin subunit of hemoglobin results in a reduced solubility of the deoxyhemoglobin molecule and erythrocytes assume irregular shapes” (Wu 1998). The DNA from each individual was subjected to “25 rounds of PDR using either the sickle cell-specific primer set (H14S and BGP2) or the normal gene-specific primer set (H14A and BGP2) using an annealing temperature” (Wu 1989). The research, Wu and his colleges conducted in 1989, has improved the technology of diagnosing sickle cell anemia by exercising easily acceptable applications, requiring a small amount of DNA, and utilizing time.