A Succinct Look Into Sickle Cell Anemia
Sickle-cell anaemia is a hereditary, homozygous, genetic blood disorder that occurs within a person who has abnormal haemoglobin on their red blood cells. The Haemoglobin are sensitive to low amounts of oxygen in the body which makes them transform into sickle or crescent shapes. This causes the abnormal haemoglobin to become stiff and sticky blocking blood flow to important organs and tissues. Healthy red blood cells will survive within the body for 120 days however, sickle-cells will rupture and break down within 20 days. The spleen is an organ which recycles old red blood cells and fights infection. Sickle-cells cause the spleen to become overwork and blocked, the bone marrow often can not keep up with the frequent lack of red blood cells and this can cause anaemia.
Symptoms of sickle-cell anaemia are usually presented in early childhood. Patients usually show symptoms between six to eight months of age. The symptoms may include pain, fever, swelling of the hands and feet but vary from person to person. Some people may show mild symptoms where others may require frequent hospital visits. This disease affects many people throughout the world mainly those whose ancestors migrated from Africa. A person who is born with the homozygous genotype “SS” will have sickle-cell anaemia.
This image shows carrier parents with genotype Ss. The parents will produces a future generation with a twenty-five percent chance of having sickle-cell anaemia genotype SS, twenty-five percent chance of not having sickle-cell anaemia genotype ss and a fifty percent chance of producing a carrier genotype Ss.
DNA is made up of nucleotides, these are broken down into sugar molecules, phosphate molecules and a base. There are four base a nucleotide could have, Thymine, Adenine, Cytosine and Guanine. DNA produces large chains of amino acid in a consistent order depending on the nucleotides gene coding. DNA continuously replicates itself, it unzips part of the ladder and new DNA strands will connect up to form additional DNA strands ensuring the survival of DNA for many years. Nucleotides are linked together to make the DNA ladder strand also known as a double helix. Amino acid contains around 20 molecules that are combined to form protein in living organisms.
Darwin’s theory of evolution by natural selection describes variants in plants, animals and fossils. Darwin’s idea challenges the idea God made all that live on earth. His scientific research was published twenty-eight years after he started. Darwin stated, “individuals with characteristics most suited to the environment are more likely to survive and breed successfully, this will allow them to pass on their survival characteristics to the future generations.”
Malaria is a disease carried by mosquitos, when they feed on human blood they pass on a parasite. The single-celled mosquito parasite multiplies in the mosquito’s intestines as well as red blood cells in humans. Areas such as Africa, South Asia and Middle East are at risk of catching the malaria disease. Throughout the generations and following Darwin’s theory of natural selection humans within these areas have evolved in order to survive. Sickle cells anaemia appears more within these countries as a survival trait within the human body. The sickle shape cells die off quicker than the regular red blood cells which causes the parasite carrying the malaria disease to become stuck within them and die along with the sickle shaped red blood cells.
A recent piece of research on sickle-cell anaemia published by Ballas, Samir in June 2002 explains how sickle-cell anaemia influences a person’s life and what steps are taken to relieve pain. Ballas states “…social interactions, intimate relationships, family relations, peer interactions, education, employment, spirituality and religiosity” are all affected when a person is sickle-cell anaemic. There are many different therapies used to manage the disease, a sympathetic approach including pain management, blood transfusion and treatment of organ failure.
Individuals undergoing pain management will be assessed as to what therapy and utilisation period is needed, also an assessment into what medication would benefit the patient will be assessed for adequate pain relief.
Intense chest syndrome is one of the common organ failures amongst the sickle-cell anaemic patients. This syndrome is managed through hostile treatments including but not limited to multiple antibacterials and blood transfusions depending on how severely the patient’s symptoms are. Throughout the last decade there has been significant advances in the way sickle-cell anaemia patients are cared for, one most important aspect was the discovery of hydroxyurea and how this can help patients with sickle-cell anaemia.
In conclusion as humans have two chromosome 11s a person can only have sickle- cell anaemia if both chromosome 11s are affected. If only one chromosome 11 is affected that person will be a carrier of the sickle-cell anaemia disease. Although the disease is more common in areas with malaria as the mutation in the DNA helps fight malaria it can still be found throughout the world.
Abstract Sickle cell anemia (SCA) is a globally prevalent, monogenic, life-threatening blood disorder with a complex pathology that remains obscure. A deepened understanding of the malady in the recent years has led to pharmaceutical advancements that target pathophysiology and ultimately ameliorate associated multivariate clinical manifestations. Abnormal cell to cell interactions, endothelial adhesion, induced oxidative stress, intracellular erythrocyte dehydration and concentration levels of fetal hemoglobin are a few factors know to play a key role in microvascular obstruction in individuals with...
Introduction Haemoglobin is a word that was coined from two words “haemo” which means blood and “globin” meaning protein. Globin is a protein substance of four different polypeptide chains that have (141-146)amino acids. Haemoglobin is a conjugated globular protein. There are two important oxygenbinding proteins in vertebrates namely haemoglobin (Hb or Hgb) and myoglobin. Haemoglobin supplies oxygen (O2) to tissues. Haemoglobin’s function is to transport oxygen (O2) in the blood from the lungs to other tissues of the body and...
Sickle cell anemia is severe, chronic and even fatal disease. It causes red blood cells to break down and and sickle (form a crescent shape). It occurs due to a point mutation in the Red blood cells which blocks blood flow therefore there is a chronic deprivation of oxygen which leads to complications such as damage to nerves, kidneys, liver, spleen and other organs in the body. Therefore it is important to find a cure, Gene therapy is one of...
Oxidative Stress and Vascular Tone The aberrant biochemistry of SCA promotes premature intravascular hemolysis. This occurs when sickled red cells release free hemoglobin polymers into the blood plasma via the free hemoglobin scavenging mechanism. This consequentially impairs the synthesis and circulation of nitric oxide thus impedes on vascular constriction( Rees, Williams, & Gladwin, 2010). Normal levels of nitric oxide maintain vascular tone by stimulating the vascular endothelium to relax. Accumulation of hemoglobin in the plasma are reported to be avid...
“This disease has impacted my life in so many different ways: good and bad.” These are the words from Natasha Thomas, a woman who was diagnosed with sickle cell disease at the age of seven. Sickle cell disease is a blood disorder that affects the red blood cells in the body. A healthy red blood cell is normally round and the sickle cells are half-moon shaped. This irregular shape does not carry enough oxygen throughout the body causing organ damage...
Sickle Cell Anaemia is an autosomal recessive disorder which is passed through generations; meaning it is a hereditary disease. To inherit Sickle Cell Anaemia an individual must receive a mutated gene from both their paternal and maternal side. Those who only receive one mutated gene are said to be carriers of the disease but are not affected. Sickle Cell Anaemia is most commonly found in Mediterranean countries which have African descent. According to (Hematology.org, 2019) Sickle Cell Anaemia affects 1...
Sickle cell disease (SCD) is a group of genetically inherited diseases that affect the red blood cells. This disease is caused by a base substitution – which is a type of mutation- where the sixth amino acid valine is substituted for glutamic acid. The difference in the solubility of the two amino acids causes a change in the shape of the haemoglobin, where the round shape of the Hb becomes sickled. The sickled haemoglobin carries oxygen less efficiently due to...
Common facts about the organ and symptoms Ovaries are an integral organ in the female reproductive system in which ultrasound plays an outstanding role in diagnosing and differentiating many ovarian pathologies. The main function of the ovary is to release a mature oocyte every 28 days and to secrete oestrogen and progesterone for maintaining the reproductive cycle and to support pregnancy. The importance of differentiation between functional to non-functional pathologies can provide significant implications in terms of management to relieving...
Ethical codes of practice have evolved throughout history as a consequence of events, studies, and human nature. Ethical consideration was first documented by the American Psychology Association (APA) when founded in 1892, a majority of the first psychological articles published focused on ethics. A review of the articles indicated that psychologists were exploring ethical issues that are still currently researched such as confidentiality, conflict of interest, and consent (Sinclair, 2017). The Nuremberg Code of Ethics in Medical Research (1947) was...
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