Sickle Cell is a group of disorders that interferes or alters the hemoglobin, which is the molecule in the red blood cells that transports oxygen to various parts of the body. Individuals that suffer from this disorder have unusual hemoglobin molecules known as hemoglobin S, which can alter red blood cells into some sort of crescent or sickle shapes (Mayo Clinic, 2020). In essence, sickle cell anemia is an inherited red blood cell condition, whereby there are not enough healthy red blood cells to deliver oxygen throughout the body parts. Typically, red blood cells are flexible, round, and move easily through the blood vessels. However, when individuals suffer from sickle cell anemia, the cells which become sickle or crescent shaped turn into rigid, sticky, and can consequently stick in small blood vessels, slowing down the movement of blood and oxygen throughout the body. Sickle cell disease is the most prevalent monogenic disorder. According to Sedrak & Kondamudi (2019), the prevalence rate of this condition is high among individuals of Sub-Saharan Africa, Middle East, South Asia, and the Mediterranean. Sedrak & Kondamudi (2019) also estimates that the population of people with sickle cell anemia is about 100,000 in the United States, and is projected to increase. Additionally, the most common genotype is homozygous hemoglobin SS, while the most common heterozygous disorders are hemoglobin sickle beta plus thalassemia, sickle beta zero thalassemia and hemoglobin sickle cell disease (Sedrak & Kondamudi, 2019).
Etiology and Risk Factors
Sickle cell disease is caused by a mutation in the gene that instructs or directs the body to manufacture the iron-rich compound (Hemoglobin) that makes red blood cells to transport oxygen from the lungs to the body. Both the mother and the father must pass the mutated gene for a child to have the condition. In case only one parent passes the sickle cell disease to the newborn baby, that baby will only have the sickle cell trait. A child with the sickle cell trait (having one normal hemoglobin gene, and one mutated form of the gene) manufacture both sickle cell hemoglobin and normal hemoglobin. Therefore, the blood of such individuals might have some sickle cells, although they usually do not have symptoms for the disorder. However, these individuals are carriers, and they will most likely pass the sickle cell gene to their children. Sickle cell anemia mostly affects black people in the United States, and this means they are at a greater risk (Sedrak & Kondamudi, 2019). Since the condition is genetic, it implies that people are born with it, and that it is unlikely or impossible for individuals not born with the condition to acquire it in their advanced ages. Environmental risk factors can apply to the severity of the condition. For instance, people living in places with poor air quality could have the condition progress rapidly to severe states because little oxygen may be transported to the body.
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Pathophysiological Processes
When oxygen in the vascular system becomes insufficient, sickle hemoglobin becomes significantly insoluble, and consequently, polymer formation in the blood increases, and the general viscosity in the blood rises. Subsequently, these events trigger the formation of tactoids, a form of hemoglobin that is gel-like that occurs in equilibrium when the hemoglobin is in its ordinary soluble state (Smith, 2018). The proportion of each type depends on various factors. The first factor is the presence of oxygen, and in this case the presence of adequate oxygen supports occurrence of the liquid state. The second factor is the concentration of sickle hemoglobin, where more HbS supports gel-like state. As time progresses the cell membranes could get permanently damaged, consequently making the cells to stay permanently in the bi-concave sickle shape, even when the blood gets exposed to adequate concentrations of oxygen again.
Clinical Manifestations and Complications
The first symptoms of sickle cell disease seem to manifest in young children of about six months to one year old because the high concentration of fetal hemoglobin plays a protective function before birth (Smith, 2018)). Three major complications can arise as the diseases progresses, and they include: sickle cell crisis, anemia, and multiple organ damage. Sickle cell crises may occur because of the high viscosity of the blood as well as the formation of blockages within the blood vessels. When the rigid cells come together, they can hamper the flow of oxygen and disrupt supply to critical tissues that need oxygen. This process leads to sudden and severe pain, which is referred to as sickle cell crisis.
Anemia can manifest because of hemolysis of the red blood cells with sickle hemoglobin within the spleen. The red blood cells will consequently have a shorter lifespan compared to normal ones, and therefore, anemia can manifest. Lastly, main organ damage can happen to patients with sickle hemoglobin over a prolonged period of time. The failure can affect the skeleton, heart, eyes, spleen, lungs, brain, skin, and the kidneys.
Diagnostics
In the United States, a large proportion of patients with sickle cell disease are diagnosed with prenatal or newborn screening. The diagnosis is based on hemoglobin electrophoresis that quantifies the different forms of hemoglobin and detects the various hemoglobinopathies (Sedrak & Kondamudi, 2019). However, the usual lab evaluations comprise of complete blood count (CBC), with differential diagnosis such as complete metabolic panel, reticulocyte count, bilirubin level, LDH level, and determination of blood type. Additionally, appropriate cultures, including that of blood need to be taken if the infectious process is suspected. Lastly, imaging may also be conducted to get chest x-rays to diagnose acute chest syndrome.
References
Mayo Clinic. (2020). “Sickle cell anemia”. Retrieved from https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
Sedrak, A., & Kondamudi, N.P. (2019). Sickle Cell Disease. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK482384/
Smith, Y. (2018). “ Sickle-Cell Disease Pathophysiology”. Retrieved from https://www.news-medical.net/health/Sickle-Cell-Disease-Pathophysiology.aspx
