The Sickle Cell Trait and Disease

Posted: March 27th, 2020

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The Sickle Cell Trait and Disease

The sickle cell trait is a blood impairment that affects red blood cells within the body. The condition involves a situation where a person possesses a single abnormal allele of the hemoglobin beta gene, but does not display any severe symptoms of sickle cell disease. Hemoglobin is a protein found in red blood cells that transfers oxygen all over the body (Penman et al. 21242). Individuals that inherit a particular sickle cell gene are capable of passing the trait to their offspring (Serjeant 9). The sickle cell trait is usually passed down from parent to child for many generations. In case both parents possess sickle cell traits, their biological offspring have a 50 percent probability of acquiring the disease once they inherit the sickle cell gene. This feature is likely to translate to a 25 percent chance of inheriting sickle cell disease. Alternately, once a single progenitor is diagnosed with the respective attribute, the offspring do not have any chance of acquiring the illness. Different sickle cell diseases are distributed in various ways. For instance, sickle cell anemia, cystic fibrosis (CF), and Tay-Sachs disease are all inherited as autosomal recessive conditions.

There are different forms of the sickle cell disease. The most common type is Sickle Cell Anemia (SS) that occurs when an offspring inherits a single beta globin gene from each parent. Most of the population with SS is considered to be from the Indian and African descent. Sickle Hemoglobin C Disease (SC) is a common sickle cell disease that occurs when an offspring possesses distinct substitution of hemoglobin C and hemoglobin S produced by beta globin genes. This is similar to Sickle Beta Thalassemia (SB) disease (Maitra et al. 4). However, people experiencing SC disease possess a higher blood count level that limits the nature of their symptoms. People with Sickle Hemoglobin D Disease are common in people from Asian and Latin American descent, and it is caused by varied substitution of the beta gene.

            One of the proteins essential for the transport of oxygen through the body is the beta globin protein. It is a subunit of hemoglobin that is altered in the onset of sickle cell trait and disease. Any defect in the beta chain of hemoglobin has been associated with sickle cell traits. Hemoglobin consists of three classifications. They include hemoglobin A, A2, and F. Two alpha and beta chains make up hemoglobin A, two alpha and delta chains form hemoglobin A2, and two alpha and gamma chains make up hemoglobin F (Penman et al. 21242). Mutation of the sickle cell trait appears in the hemoglobin-Beta (HBB) gene on chromosome 11 (11p15.5). Proteins within this region bundle together because of a deprivation of oxygen saturation leading to changes in the performance and shape of red blood cells.

            Changes in the hemoglobin-Beta gene are naturally selected based on the scope of the carriers. A combination between the inherited sickle cell gene and a normal gene has been considered to be a potential cause of the individual trait. While most people possess two common hemoglobin genes, others possess one standard gene and one sickle cell gene. The genes consist of chromosomal cells acquired from the egg and the sperm of the parents. A combination of different genes determines the nature of specific traits such as height, hair color, and weight. The sickle cell phenotype is comprised of three distinct dominances that can be characterized depending on their traits (Bürger and Bagheri 498). Practitioners who have carried out genome inspection have recognized that all sickle cell traits are attributable to genetic determinants that can be found in a single chromosome (Serjeant 9). The hemoglobin-Beta gene has been associated with other diseases caused by different gene mutation other than the polymerization of hemoglobin S.

            The hemoglobin-Beta gene encodes beta-globin, which is essential in producing standard hemoglobin. Persons who have the sickle cell trait will typically receive a standard allele trait and another atypical allele trait, consequently resulting in the hemoglobin genotype AS. Beta globin is one of the most common proteins that make up hemoglobin in adults. The protein is encoded within the human chromosome 11, where widespread gene mutation occurs. Sickle hemoglobin (HbS) is one of the many beta globin variants produced through point mutation (Penman et al. 21242). The changes experienced by the protein accelerate the acquisition of the sickle cell trait through a particular process. During the process of mutation, the classification of three nucleotides is replaced by other codons, leading to the replacement of glutamic acid with valine at the sixth spot (Shih et al. 1675). A hydrophobic spot is subsequently adjoined to the hemoglobin molecule’s beta chain, and the process results in clumping. Clumping of the sickle hemoglobin molecules affects the red blood cells and distribution of oxygen across the body. Subclinical tissue infarction caused by impediments of inflexible erythrocytes may affect aggregate body parts, leading to renal medullary carcinoma and kidney disease (Mariño 150). This outcome is attributed to the polymerization of deoxy-hemoglobin S (6) caused by extreme hypoxemia and hyperthermia in the vasa recta arterial blood of the renal medulla.

            It is possible to evaluate the effect and level of mutation from the DNA level to the level of the entire organism in its normal state. People with sickle cell traits do not possess the disease, but rather carry a gene that is likely to interfere with the DNA and proteins. A typical protein molecule and gene is made up of DNA and RNA structures that prevent clumping. However, mutant protein and DNA molecules become sickle-shaped, interrupting the flow of blood (Maciaszek and Lykotrafitis 659). Any substitution of the sixth amino acid that is found in the beta-globin will result in an eventual malformation of the entire red blood cell. This form of mutation is known as point mutation or substitution, which involves the changing, insertion, or deletion of a single nucleotide base from a chain of DNA or RNA (Rees, Williams, and Gladwin 2018). This condition is challenging for the person with the sickle cell allele, especially during intense activities, as it may often cause them to experience fatigue.

            Sickle cell trait possesses minimal distinct symptoms in conjunction with rare medical problems. However, in some extreme cases, patients may experience blood in their urine, due to combined mutation with other bodily factors. Similarly, some patients may develop symptoms similar to those of sickle cell disease. For instance, some patients may experience extreme pressure in the atmosphere, similar to that experienced during exercise (Key and Derebail 418). Additionally, patients may experience reduced oxygen levels at high altitudes while performing arduous physical movements. Some may suffer from dehydration, which is common among athletes. Diagnosis of the trait is carried out through a simple blood test, mostly after inception. Practitioners often take a tissue sample from the placenta or the amniotic fluid to determine the presence of a sickle cell trait. Older adults and children can access blood tests in hospitals and medical centers. Sickle cell trait does not need any treatment, but may warrant the need for interventions, particularly among athletes.

            The sickle cell allele affects certain populaces considerably. Approximately one in thirteen African Americans are born with the trait. Over 300 million people across the globe possess the sickle cell trait (Tsaras et al. 507). Additionally, people with ancestors from South Asia, the Middle East, and the Mediterranean are particularly susceptible to the trait. Four percent of the Central and South American population possess the attribute with a prevalence of one in 2000. Sickle Hemoglobin C Disease (SC) and Sickle Hemoglobin O Disease primarily affects people from West African, Mediterranean, and Middle Eastern descents. Furthermore, people of Hispanic, South Asian, and Southern European descent are at especially high risk. Most of the affected inherited the blood disorder, leading to the production of abnormal hemoglobin. However, about 15 percent of children born with sickle cell disease are likely to die at the age of 20. On the other hand, the median life expectancy for people with the illness is 40 years of age for women and men, even though the latter is more exposed to the ailment at an early age (Maitra et al. 3). Sickle cell trait and disease are ailments that affect people’s health and wellbeing in numerous ways.

Works Cited

Bürger, Reinhard, and Homayoun C. Bagheri. “Dominance and Its Evolution.” Encyclopedia of Ecology, 2008, pp. 945-952.

Key, Nigel S., and Vimal K. Derebail. “Sickle-Cell Trait: Novel Clinical Significance.” ASH Education Program Book, vol. 2010, no. 1, 2010, pp. 418-422.

Maciaszek, Jamie L., and George Lykotrafitis. “Sickle Cell Trait Human Erythrocytes are Significantly Stiffer than Normal.” Journal of Biomechanics, vol. 44, no. 4, 2011, pp. 657-661.

Maitra, Poulami, et al. “Risk Factors for Mortality in Adult Patients with Sickle Cell Disease: A Meta-Analysis of Studies in North America and Europe.” Haematologica, 2017, pp. 1-42. doi:10.3324/haematol.2016.153791.

Mariño, Enríquez, et al. “ALK Rearrangement in Sickle Cell Trait-Associated Renal Medullary Carcinoma.” Genes, Chromosomes, and Cancer, vol. 50, no. 3, 2011, pp. 146-153.

Penman, Bridget S. et al. “Epistatic Interactions between Genetic Disorders of Hemoglobin Can Explain why the Sickle-Cell Gene is Uncommon in The Mediterranean.” Proceedings of the National Academy of Sciences vol. 106, no. 50, 2009, pp. 21242-21246.

Rees, David C., Thomas N. Williams, and Mark T. Gladwin. “Sickle-Cell Disease.” The Lancet, vol. 376, no. 9757, 2010, pp. 2018-2031.

Serjeant, Graham R. “The Natural History of Sickle Cell Disease.” Cold Spring Harbor Perspectives in Medicine, 2013, pp. 1-12.

Shih, Hung-Chang et al. “Rapid Identification of HBB Gene Mutations by High-Resolution Melting Analysis.” Clinical Biochemistry, vol. 42, no. 16-17, 2009, pp. 1667-1676.

Tsaras, Geoffrey et al. “Complications Associated with Sickle Cell Trait: A Brief Narrative Review.” The American Journal of Medicine, vol. 122, no. 6, 2009, pp. 507-512.