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Sickle Cell Disease Essay

Background Definition

Sickle cell disease refers to a group of inherited disorders of the red blood cells that affect the hemoglobin, the proteins which carry the oxygen in the body. The erythrocytes for a patient with sickle cell disease are in a crescent shape compared to the ordinary person, which is disc-shaped and flexible with the ability to squeeze in between the narrow capillaries. The disease is also called sickle cell anemia. It is caused by gene mutation, which responds to the body by making compounds rich in iron that makes the blood red, enabling the red blood cells to carry oxygen from the lungs to other parts of the body (Slaughter & Dilworth-Anderson, 2017). The presence of this abnormal hemoglobin in the bloodstream makes the erythrocytes rigid, sticky with a “C” shape conformation that can slow or block the normal flow of oxygen to various parts of the body. For a case study, when one parent has sickle cell disease, the parent can pass the sickle cell gene to the child who will develop the traits for sickle cell with one normal gene for hemoglobin and another carrier form of the gene. Therefore, it is said that the trait for the sickle cell can manifest in both normal hemoglobin and sickle cell hemoglobin.

The gene for this disease is now known to be widespread worldwide, with many regions experiencing it. This has gone as far as equatorial Africa, where high incidences have been reported, extending to some parts of Southern Italy, Turkey, and India. Pathologist in the medical field suggests that this disease has no sex predilection existing since it is not an X-linked disease (Ghosh, 2018). Although no particular gender is associated with the disease predisposition, data analysis from the US Renal Data System observed marked male predominance of sickle cell nephropathy in affected patients. This condition is more associated with the nephrons. Sickle cell anemia is a health disorder that follows the family history, and therefore it is an inherited disease that starts proliferating from birth. This means that the disorder is mostly seen in children during their early stages of life after inheriting the sickle cell genes from their parent (Ghosh, 2018). In other words, this is a condition that one has to grow up with, and data analysis shows that an individual cannot or rather has low chances of developing the disease in adulthood. However, sickle cell disease is most common in some ethnic groups, such as African-Americans and Hispanic-Americans, estimated to have a higher prevalence.

Symptoms and Predisposing Factors of Sickle-cell Anemia

All the major virtual symptoms of sickle cell anemia are what direct the results of abnormal shapes of red blood cells that block blood flow. Therefore, many signs and symptoms start appearing at the age of five months, which varies from one person to another and change with time. Some of these are: Episodic pains which are major symptoms that occur when the sickle-shaped red blood cells block the normal blood flow to the chest and other vital organs of the body (Prussien et al., 2018). When there is an inefficient supply of oxygen, suffocation may occur due to hypoxia, leading to pain such as periodic pains. Episodic pains are together with abdominal pains, especially for the lower abdomen, due to digestive and absorption systems abnormalities.

The swelling of the hands and feet that comes from little supply of oxygen in the body is another symptom of the disease. Anemia is one of the symptoms where there is easy breakage of the sickle cell and eventually dies, thus making a person remain with few red blood cells in the body (Prussien et al., 2018). The sickle cells only survive for about ten to twenty days from the normal 120 days in anemic conditions. Symptoms of stroke also show the presence of sickle cell disease, where one feels like they are paralyzed from the side of the body, causing weaknesses in walking and unexplained numbness. Delayed and stunted growth may result from a shortage of healthy red cells that slow the growth in infants.

Multiple factors precipitate the sickling process for patients with sickle cell disease. The events that can lead to acidosis, such as extreme dehydration, can predispose to this condition. Hypoxic conditions in local tissues, nausea and vomiting, can cause hypertonicity of the blood plasma, which can cause the disease to accelerate faster in affected patients (Prussien et al., 2018). Too much alcohol, cold weather and extreme physical exercises can predispose a person to sickle cell anemia. Additionally, medical conditions such as diabetes mellitus, herpes and psychological stress in the body can expose one to sickle cell anemia. Finally, cases of low oxygen levels and other body infections can predispose an infected patient to more elevated sickle cell conditions.

The Biochemical Basis of Sickle Cell Disease

Sickle cell disease is associated with various biochemical reaction processes in the body. Biochemistry typically deals with studying biological and chemical processes involving cells and molecules. As we have already discussed, this disease is a group of disorders affecting hemoglobin, a molecule in the red blood cells that conducts oxygen to various cells throughout the body. Therefore, any alterations in the single amino acid in one of the hemoglobin proteins can cause abnormal sickle shapes in erythrocytes. When relating sickle cell disease with its biochemical nature, we refer to the molecular composition and chemical reactions that occur in red cells, which accounts for the prevalence of the disease to people.

The intracellular aggregation of deoxyhemoglobin S is the primary event resulting in erythrocytes’ sickling. The hemoglobin concentration in red blood cells determines deformities in the cell, and sickle cells have reduced deformity, which can be regained through rehydration in vitro. The inside of the HbS comprises four strands surrounded by an outer set of ten strands in regular arrangements, with both strands constituting helices, each having a different pitch. The hemoglobin molecule is one of the best proteins known in the body, with the essential role of oxygen supply. The molecule has given a better ground for understanding the mechanism and regulation of enzymes in the body. Additionally, the molecules comprise four polypeptide chains, of which two are alpha chains containing residues of amino acid and other beta and gamma chains.

In this case, find that hemoglobin may have different combinations from these chains. When the alpha and the beta chains combine, they lead to the adult normal hemoglobin HbA. When the two molecules of alpha and gamma chains combine, they lead to a fetus with normal hemoglobin HbF. The gamma and beta chains differ from each other by ten amino acids. Each chain of these components surrounds a heme molecule containing a central iron atom in which oxygen is bound. The ability of these molecules to transport oxygen is conferred by the availability of globin chains attaching to the molecule. Genetic coding occurs for different chains in the synthesis of various types of hemoglobin. For this case, the chain locus for an alpha particle is located on the long arm of the 16 chromosomes while the beta one is on the long arm of chromosome 4.

Although the genetic loci produce variant hemoglobin, it is said that the most significant number of these variants is found to be associated with the beta gene, which is 25 in number. The substitution of each amino acid causes the hemoglobin variant responsible for a point mutation in the beta-globin. According to many researchers, it has been shown that genetic material for most eukaryotic proteins is kept in the genes of the axon segments where the introns undergo splicing during the processing of mRNA. The beta-globin genes in human beings contain three exons that code for 1-30 amino acids which are separated by the introns; therefore, it is estimated that the entire beta chain that forms the hemoglobin in adults is made up of around 1500 long base pairs with 146 amino acids requiring more base pairs that attach on the triplet codon.

The biochemical of sickle cell disease also involves the alterations in the permeability of the cations in the bloodstream. Thus, in the case of sickle cell anemia, there is a drastic increase in the monovalent permeability caused by the deoxygenation of sickle cells. The Successive studies made said that the summative cation contents in the sickle cell remain constant when the levels of sodium ions are the same as those for potassium. In addition, the physiological and biochemical agitation of these membranes arises when the sickle cells get deoxygenated. These include adhesiveness of the cells, uncoupling of the skeleton membranes away from the lipid bilayer and membrane lipid modification.

Various elements must be considered when discussing the relationship between sickle cell and its biochemical nature. Hemoglobin is a critical molecule focused on its molecular and chemical compositions. It is now clear that for the sickle cell to manifest, various biochemical processes involving alpha, beta and gamma chains with amino acids have to occur. It has been seen the manifestation of this disease occurs more with the presence of the beta-globin gene.

Treatment of Sickle Cell Disease

The National Institute of Health shows that many complications come from the manifestation of sickle cell anemia. Therefore, the institute advises that patient preventive care can be optimally achieved by treating the disease in clinical hospitals. Understanding proper diagnostic methods and procedures of any illness on causes, symptoms, associated medical complications and biochemical basis of the disease is vital in determining the appropriate treatment criteria. For this case, diagnosis of sickle cell anemia involves experiments on blood tests to check for the defective forms of the hemoglobin that may be underlying the sickle cell condition in erythrocytes. The blood samples are taken from veins in the arm for adults and fingers for children, and screening is done.

Treatment management of anemia aims at preventing pain episodes, symptoms relieve and avoiding complications associated. This includes using various drugs that act on the chemical process in the blood. The medication consists of hydroxyurea that reduces episodic pains for infected patients. Red blood cells for sickle cell infected patients can be removed by blood transfusions conducted in the veins. The process helps to reduce the number of sickle cell erythrocytes in the bloodstream. It increases the number of normal red cells that ultimately helps to reduce the clinical manifestation of sickle cell disease.

Medical practitioners have been involved in invasive processes of stem cell transplant in the bone marrow and replacing the affected ones with the healthy ones. However, there has been current research done on the disease, including bone marrow transplant, where the research advances on new techniques used in the transplant and other areas in medicine that include molecular biology and genetics. The treatment is related to the biochemical basis of the disease since the treatment is based on treating the beta-globin genes in the hemoglobin.


When discussing sickle cell disease, a person needs to have a background understanding of an individual’s genetic information. Biomedical research suggests that this disease follows the family history with an inheritable gene from the affected persons. Therefore, knowing how the disease causes, symptoms, and predisposing factors can help a health expert know the treatment methods to handle the disease. To conclude, medical workers should carry out an early diagnosis of the children at their early stages to reduce the cases of sickle cell disease.


Alenzi, F. Q., & AlShaya, D. S. (2019). Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia. Saudi journal of biological sciences26(7), 1377-1384

Alayash, A. I. (2017). Hemoglobin-based blood substitutes and the treatment of sickle cell disease: more harm than help?. Biomolecules7(1), 2.

Salinas Cisneros, G., & Thein, S. L. (2020). Recent advances in the treatment of sickle cell disease. Frontiers in Physiology11, 435.

Henry, E. R., Metaferia, B., Li, Q., Harper, J., Best, R. B., Glass, K. E., … & Eaton, W. A. (2021). Treatment of sickle cell disease by increasing oxygen affinity of hemoglobin. Blood, The Journal of the American Society of Hematology138(13), 1172-1181.

Slaughter, D. T., & Dilworth-Anderson, P. (2017). Sickle cell anemia, child competence, and extended family life. In Black families (pp. 131-148). Routledge.

Ghosh, R. (2018). A study of Cephalic index among the young age group of West Bengal in relation to sex and geographical factors. Indian Journal of Basic and Applied Medical Research7(3), 239-245.

Prussien, K. V., DeBaun, M. R., Yarboi, J., Bemis, H., McNally, C., Williams, E., & Compas, B. E. (2018). Cognitive function, coping, and depressive symptoms in children and adolescents with sickle cell disease. Journal of Pediatric Psychology43(5), 543-551.


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