Sickle Cell Trait

Posted: March 26th, 2020

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Sickle Cell Trait

Sickle cell trait is a blood impairment that affects the 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 deviates from any severe symptoms of the sickle cell disease. Hemoglobin is the protein located in red blood cells and carries oxygen within the body. 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. The feature is likely to translate to a 25 percent chance of obtaining 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 inherited as autosomal recessive conditions.

            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 the red blood cells.

            Change in the hemoglobin-Beta gene is naturally selected based on the scope of the carriers. A combination between the inherited sickle cell gene and a normal gene has been considered as a 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 parent. 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 the trait (Bürger and Bagheri 498). Practitioners who have carried out genome analysis identify that sickle cell traits possess one origin with a single haplotype ancestral. 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 codes the beta-globin, which is essential in producing standard hemoglobin. People with the sickle cell trait inherit a single normal allele trait and an abnormal allele trait leading to the encoding of the hemoglobin genotype AS. Beta globin is one of the most common proteins that make up hemoglobin in adult humans. The protein is encoded in 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, a 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 then sticks adjacent to the hemoglobin molecule’s beta chain leading to 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). The 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 from its normal state. People with sickle cell traits do not possess the disease, but 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 replacement of the sixth amino acid in the beta-globin leads to deformities in the red blood cells. 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). The condition is challenging for the person with the sickle cell allele, especially during intense activities, causing them to experience fatigue.

            Sickle cell trait possesses minimal distinct symptoms with rare medical problems. However, extreme case patients experience blood in their urine owing 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 such as during exercise (Key and Derebail 418). Additionally, patients may experience reduced oxygen levels and 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 increasingly susceptible to the trait. Four percent of the Central and South American population possess the attribute with a prevalence of one in 2000. Furthermore, people of Hispanic, South Asian, and Southern European descent are at high risk. Most of the affected have 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 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 may affect the health and well-being of a person in one way or the other.

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.