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Abstract

In this essay, the main accent is on the peculiarities of sickle cell disease, its symptoms, pathophysiology, genetics, managements, prognosis, and epidemiology. Undoubtedly, sickle cell disease is one of the severest diseases that dramatically influence modern society, since it reduces lifespan to 50 years. Geographically, one can investigate that sickle cell disease is most common amidst individuals of African, Arabian, Caribbean, East Indian, South and Central American, Mediterranean, and Spanish origin. This inherited disorder casts doubt on the existence of the future generation, while little research was conducted in order to prevent this disease. In this case, the management of sickle cell disease should involve various treatments, including pharmacotherapy, stem cell transplantation, iron chelation, transfusions, physical therapy, heat and cold application, acupuncture, and acupressure. All in all, it is highly recommended to investigate effective methods of patient care that directly targets pathophysiological changes and clinical complications of sickle-cell disease.

Keywords: sickle cell disease, epidemiology, hemoglobin (HBB), managements, pathophysiology, genes.

Sickle Cell Disease

Without any doubt, in the 21st century, the human have faced a big problem, commonly known as sickle cell disease. According to the definition, sickle cell disease is determined as a class of the most common severe monogenic disorders that dramatically influence hemoglobin, the molecule in red blood cells which transfers oxygen to cells of the organism. Normally, red blood cells are flexible and round; thus, they can be freely transferred through the narrow blood vessels. It is a well-known fact that the hemoglobin molecule consists of two elements, an alpha and beta. Patients who suffer from sickle cell disease have a mutation of chromosome that is responsible for coding of the beta subunit of protein. In this case, red blood cells become rigid and acquire a concave shape as a result of impossibility to form properly. These irregularly shaped cells are unable to transport oxygen effectively, since they get stuck in the narrow blood vessels (Gaston & Rosse, 1982).

In the framework of identifying the peculiarities of this disease, it is highly recommended to analyze its main signs and symptoms in order to take necessary measures and reduce patient’s pain.  It is known that sickle cell disease dramatically influences human organism, preventing oxygen from reaching heart, kidneys, liver, lungs, and spleen, which has a harmful effect on other organs. In this case, the cells that make up these organs die due to the lack of oxygen that is necessary for their structure. For instance, if the immune function is disturbed, a patient can suffer from frequent infections. Furthermore, patients with sickle cell disease always suffer from decrease in the red blood cell count, since affected red blood cells do not live as long as healthy ones. Other symptoms include: delayed growth, strokes, jaundice, severe pain in the abdomen, chest, back, and arms. Additionally, the patients can have difficulty breathing and dehydration. Various studies show that the complications of this disorder can lead to the reduction of the lifespan by about 30 years.

The pathophysiology of sickle cell disease is formed due to cellular issues caused exactly by the hemoglobin mutation interacting with the other gene products and environment. Sickle hemoglobin is caused by a point mutation in the beta-globin gene. In such gene, nucleotide is changed from thymine to adenine and amino acid in the beta-globin chain is transferred from glutamic acid to valine, which combines when deoxygenated. It is known that this mutation forms a hydrophobic motif in the deoxygenated sickle hemoglobin tetramer that can join results in β1 and β2 chains of two hemoglobin molecules (Steinberg & Rogers, 2001).

Undoubtedly, sickle cell disease is an inherited disease, since both copies of the gene in each cell have mutations. In this case, the parents of a patient carry one copy of the mutated gene. However, they normally do not demonstrate any signs and symptoms of this disease. Thus, mutations in the HBB gene entail sickle cell disease. It is known that hemoglobin includes four protein subunits, in which two subunits are called alpha-globin and another two are called beta-globin. Moreover, the HBB gene ensures instructions for making beta-globin. It is investigated that abnormal versions of beta-globin can dramatically affect red blood cells and distort them into sickle shape (Gaston & Rosse, 1982).

The management of sickle cell disease includes seven basic treatment strategies that relate to treatment of vaso-occlusive crisis, chronic pain syndromes, chronic hemolytic anemia, infections, management of the various organs damage, prevention of stroke, and detection of pulmonary hypertension. Furthermore, such treatment methods as pharmacotherapy, stem cell transplantation, iron chelation, transfusions, physical therapy, heat and cold application, acupuncture and acupressure are also used.

Indisputably, modern technologies and devices significantly improved the quality of treatment that is applied to sickle cell disease. For instance, in 1973, the average lifespan of people who were suffering from sickle cell disease was much shorter (fourteen years). Owing to the innovations of the 21st century, life expectancy of the patients with this disease can reach 50 years. Moreover, scientists determined that lifespan heavily depends on the gender of a patient. It is generally true that female generation with sickle cell live longer than their male counterparts.

Nowadays, it is known that sickle cell disease influences millions of people around the word. It is most common amidst individuals of African, Arabian, Caribbean, East Indian, South and Central American, Mediterranean, and Spanish origin. Moreover, this disorder is the most prevalent inherited blood disorder in the USA and about 80,000 Americans have it. Statistically, 1 in 500 African Americans and 1 in 1,500 Hispanic Americans suffer from sickle cell disease. Annually, about 5,000 pregnant women in the USA are at risk of sickle cell disease. Furthermore, seven to nine children in Africa are born each year with sickle cell disease. Statistically, 1 in 600 African infants have sickle cell disease (Modell & Darlison, 2008).

All in all, sickle cell disease is identified as one of the severest disorders in the world. This disorder occurs as a result of mutation of the hemoglobin gene. It relentlessly influences human generation causing various complications, such as stroke, anemia, blockage of blood flow, and various infections. A patient with sickle cell disease can live only up to 50 years. Consequently, it is highly recommended to investigate effective management that directly targets pathophysiological changes and clinical complications of sickle-cell disease.

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