Introduction
Sickle Cell Disease is a common term in medical biology, and it refers to the description of red blood cell disorders having an inherited connotation. Individuals suffering from this disease are attributed to have abnormal hemoglobin, which is often referred to as hemoglobin s. This term is also called sickle, thus the name sickle cell disease. Hemoglobin is the red coloring in matter of the blood, and it carries various nutrients, which are either transported or inferred into the body system (Johnson, 2005). This disease thus, ruins the red blood cells making them incapable of carrying out their normal functions. This is what leads to the abnormality of the patient, whose lifespan is destined to a fixed age due to this disease. What happens is that the red blood cells become defective, losses power to synchronize and coordinate their activities, thus rendering the victim tired and pale.
Before, delving deeper into this topic, it is imperative to have a clear understanding about the origin of sickle cell, and how it manifests within the body. SCD as stated before is a hereditary disease, and not having any contingency aspect of infection. Thus, this disease is purely contracted out of genetic heredity from a parent to a child. What this implies is that, SCD passes into the child’s gene from the mainstream genes of the parents. One stipulation that must occur for this condition to exist refers to the passage and inheritance of two abnormal genes contributed by both parents (Johnson, 2005). Therefore, both parents must be carriers to this disease in order to donate two genes to the child. The severity of this disease becomes a parent when a person inherits both genes (SS), and thus cannot produce hemoglobin, which is the main factor in the red blood cell production, and helps in facilitating its optimal conditions as well as functions.
Pathophysiology of Sickle Cell Disease
Sickle cell disease as reiterate above is a hereditary condition, which leads to the destruction of red blood cells, thus making them confess a rigid “sickle” shape. This disease is associated with several symptoms, which would just be significance to its manifestation. Some of the symptoms that have been established to be associated with sickle cell disease include conditions of chronic anemia, extreme fatigue, the body exhibiting a pale skin color, having difficulty, or what is commonly known as shortness in breath. Other symptoms that are associated with SCD include susceptibility of the victim to jaundice as well as complain of eye problems (Jones, 2008). The victim also experiences incidences of delayed growth, and severe abdominal pain; this pain is so recurrent thus causing discomfort to the patient. The severity and intensity in these conditions increase as the victim grows. However, this disease has been found to be common among persons of African descent, but would rarely attack individuals hailing from Middle East, India, and the Mediterranean regions.
The main cause for sickle cell disease is due to the existence of variant hemoglobin called hemoglobin S (Hbs). Since hemoglobin is responsible for the transportation of the protein from the red blood cells to other parts of the body, this condition deprives the body off the necessary protein needed for its proper and optimal functioning. Due to the malfunctioning in the red blood cells due to the fewer amounts of proteins, this problem will manifest deeper into the body, thus generating critical impacts to the body in terms of performing its normal functions. The sensitivity of Hbs to oxygen deficiency is a defining stage for which the disease acts on the body. The transportation of red blood cells by the carrier red blood cells to other body parts leads to low oxygen concentration in to the red blood cells, but instead of acting in the same manner as the hemoglobin, Hbs stacks with red blood cells, and fails to generate more oxygen for the optimal body functioning, and sustainability of the red blood cells (Jones, 2008). This leads to shortage in the level of red blood cells produced due to this staking effect. In addition, the stacking of the red blood cells with the Hbs into filament like rods, further leads to the formation of parallel bundles, and these bundles result to the elongation and distortion of the red blood cells and making them rigid. The formation of these rigid like structures is the basis for the generation of sickle cells in the red blood cells. The sickle shapes developed after the elongation of the cells and the Hbs becomes deterrent to production of enough oxygen, precipitating to lower levels of red blood cells transferred to the body parts for action.
Literature Review
Explanation of the pathophysiology of the sickle cell disease could be exhibited by scholarly view and opinion. According to Johnson, (2005), sickle cell anemia is resulted due to the interaction of variant genes from both parents. The author reiterates that this interaction leads to the formation of variant hemoglobin, though the respective genes contributed by both parents profess a homozygous state. In addition, a condition might arise where an individual inherits only one invariant hemoglobin gene from the parent, and the other gene from a normal parent. The person is called a carrier and is referred to as having a heterozygous state of Sickle Cell Disease. Therefore, persons exhibiting a heterozygous state do not show symptoms of manifestation to this disease, except when exposed to greater altitude areas
Jones, (2008), states that sickle cell disease has no express cure. In his book, the author reiterates that only s common symptoms could be mitigated, but there is no express cure to this disease. According to the author, penicillin is a common drug that is given to children in order to reduce severity of infections associated with this condition. In addition, patients who are at advanced stages of this disease are transfused with blood, just to prevent organ damage as well as incidences of stroke. However, complex cases of SCD have attracted operations like bone marrow transplantation. Other drugs used to suppress SCD include hydroxeyrea, whose actions are aimed at reducing the principal symptoms associated with this disease.
Interview and its Outcomes
I conducted an interview to a patient who has been ailing with SCD for 21 years, so I could hear her insights of her condition and establish an outcome-based assessment in relation to the pathophysiological interventions already done:
Here, I will only give a few questions and responses, that I believe would be sufficient to meet my objective with regards to my finings.
1. When did you contract this disease?
Since childhood, I have lived with this disease
2. What is your race?
Both my parents are African-American, but with their heritage from Western Africa
3. Are there some conditions that you feel are not normal in your body system?
Mostly, I feel fatigue, abdominal pain, pale skin color, and such like symptoms.
4. Have your parents been diagnosed of this disease?
Sure, both parents are carriers to this disease
5. What medication do you take to reduce these symptoms?
Penicillin, yydroxeyrea, and I were once transfused of blood.
Thank a lot for your feedback
Summary
References
Johnson, C. S. (2005). Sickle cell disease. Philadelphia: Saunders.
Jones, P. (2008). Sickle cell disease. New York, NY: Chelsea House Publishers.
