Sickle Cell Anemia, Case Study Example

Etiology

Sickle Cell Anemia is a complex disease with genetic roots that impacts human hemoglobin and blood production (Ballas et.al, 2009). This disease is represented by a mutation in the B-globin gene that facilitates a number of weaknesses in cell development that impact functionality (Ballas et.al, 2009). This disease contributes many weaknesses in the formation of human blood cells, including their sickle shape and limited capacity (Ballas et.al, 2009). As a result, hemoglobin does not function in a routine manner and impacts body organs and systems in a negative manner (Ballas et.al, 2009). The impact of this disease on human physiology and function has a significant bearing on reducing the quality of life within this patient population.

Pathophysiology

The mutation of the B-globin gene is the primary cause of sickle cell disease, thereby shifting the structure of the erythrocyte and impacting its ability to function normally due to its unique shape and leading to increased levels of stress in this cell group (Rees et.al, 2010). Specifically, this process includes a chain reaction of events, with the primary consideration emphasizing HbS polymerization and subsequent reduced oxygen levels in hemoglobin (Rees et.al, 2010). These weaknesses in cell production and their unique shape contribute to the anemic state and the experience of acute pain as related to vascular weaknesses and tissue disruption (Rees et.al, 2010). From this perspective, tissue injury is expanded to include vascular occlusion and increased stress associated with oxygenation (Rees et.al, 2010).

Sickle cell disease is also characterized by a condition known as hemolytic anemia, which is a key facilitator of the anemic state, but also vasculopathy as part of the aging process that impacts cell function and the potential risk of pulmonary hypertension in patients (Rees et.al, 2010). This response is somewhat different from the classification of patients who experience pain in different areas of the body as a result of limited oxygenation of hemoglobin (Rees et.al, 2010). Nonetheless, as the disease progresses, there are increasingly challenging functional weaknesses that reduce quality of life and a variety of different symptoms that impact their wellbeing (Rees et.al, 2010).

Incidence/Prevalence

Sickle cell disease is prevalent in many areas throughout the world; however, there is an increased incidence and frequency of cases in sub-Saharan Africa, with approximately 230,000 new cases annually (Rees et.al, 2010). This statistic accounts for 80 percent of all cases throughout the world, while in comparison, there are approximately 2,600 cases per year in North America and 1,300 cases per year in Europe (Rees et.al, 2010). It is somewhat challenging to examine the pattern of sickle cell disease, particularly in Africa, perhaps due to the limited diagnostic capabilities (Rees et.al, 2010). Therefore, in this nation, this disease leads to a very high mortality rate because no diagnoses have been made and no form of treatment has been initiated (Rees et.al, 2010). It is important to recognize these disparities and to address the challenges that exist with respect to developing new screening tools and alternatives for treatment to promote early diagnoses (Rees et.al, 2010). Furthermore, the incidence of several bacterial strains that impact sickle cell patients, including Streptococcus pneumoniae and Haemophilus influenze often remain undetected in Africa, thereby leading to early mortality in patients, particularly in Africa (Rees et.al, 2010). Furthermore, it is believed that there is a unique relationship between malaria and sickle cell disease for patients in Africa, with the risk of death higher in patients with malaria who also have sickle cell disease (Rees et.al, 2010). It is important to consider the opportunities that are available to improve diagnoses, particularly in African children, so that there is a reduced risk of long-term complications and death, as well as a means of treating the condition as early as possible (Rees et.al, 2010).

Signs/Symptoms

Sickle cell disease is primarily identified through an examination of hemoglobin, and is available in some nations as a prenatal screening technique in order to determine possible treatment tools after birth (Rees et.al, 2010). In addition, the disease is characterized by a number of symptoms that are exacerbated from time to time, such as the following: 1) acute pain, which is identified in many patients in different forms, reduces quality of life in this patient population, and is typically treated with opiate analgesics; 2) bacterial infections, which are often identified in patients with sickle cell disease as a result of reduced immunity, limited functionality of the spleen, reduced nutrient absorption, and tissue damage; 3) neurological concerns, such as stroke, which are common in children with this disease, as well as other related complications that impact the risk of stroke and possible reoccurrence in the future; 4) acute chest syndrome, which limits lung function, impacts breathing, and may require ventilation in some cases, as well as the use of Dexamethasone; 5) pulmonary hypertension, which is difficult to control and must be considered very carefully when addressing treatment alternatives; 6) heart disease, which is often diagnosed on the left side, typically represents diastolic functionality, and may contribute to increase mortality in many individuals who also have been diagnosed with acute chest syndrome; and 7) renal dysfunction, which is highly likely to occur and is typically caused by limited hydration and glomerular hyperfiltration that is diagnosed at an early age (Rees et.al, 2010). Each of these conditions may occur in patients with sickle cell disease and are dependent upon a number of underlying factors, as well as the overall health of patients who fall into this category (Rees et.al, 2010).

Treatment

Upon diagnosis of sickle cell disease, treatment alternatives must be considered as early as possible in order to prevent as many complications as possible. This is achieved through the continued development of new perspectives that must incorporate existing knowledge regarding the disease, as well as the options that exist to ensure that the condition and related symptoms are minimized. It is important to identify symptoms and their causes as early as possible in order to improve management of the disease and to prevent serious or long-term complications. However, this is a challenging process and demonstrates a need for additional resources and insight regarding sickle cell disease in order to achieve the desired outcomes for this challenging population group.

For patients with sickle cell disease, one of the most frequent symptoms that requires additional and immediate attention is pain. Therefore, it is important to identify the source of the pain and the methods that are available to treat this pain to alleviate this challenging symptom. For example, sickle cell pain is often acute and is described as follows: “The acute pain of tissue infarction, in skeletal or soft tissue, tends to be sudden, unpredictable in onset and intense. Most adults with SCD are aware of their triggers for vaso-occlusive pain episodes and are sensitive to avoiding them” (Delicou and Maragkos, 2013, p. 30). Under these conditions, it is necessary to evaluate the origins of the pain and to determine how to best treat these pain episodes effectively through hospitalization, particularly when a pain crisis occurs that requires a focused treatment strategy (Delicou and Maragkos, 2013). Most importantly, it is necessary to establish a greater understanding of pain as it evolves in patients with sickle cell disease and to demonstrate the impact of pain scales and other tools that are likely to be effective in enabling clinicians to identify the sources of pain and to establish the most cohesive treatment plan (Delicou and Maragkos, 2013). Treatment alternatives for pain associated with sickle cell disease include fluid replacement, increased oxygenation as necessary to improve oxygen saturation, thromboprophylaxis using heparin IV drips to reduce this risk, as well as analgesics under a controlled state that are administered to alleviate pain episodes (Delicou and Maragkos, 2013). Each of these factors is critical in the development and growth of treatment alternatives for patients with sickle cell disease on a consistent basis.

Conclusion

Sickle cell disease is a complex condition that affects specific population groups more frequently than others and is very challenging to treat in some cases. The condition is characterized by a distinct hemoglobin mutation which leads to the irregular development of red blood cells, thereby contributing to their sickle shape and limited ability to oxygenate in the desired manner. As a result, red blood cell function is severely limited and often leads to the development of different types of complications in patients who face these obstacles. In countries such as Africa where there are limited resources, diagnoses and treatment are limited, thereby leading to early mortality in many patients with this condition. Furthermore, bacterial infections may exacerbate the condition and lead to other complications. Therefore, in order to manage and treat sickle cell disease effectively, early diagnosis is critical and must include the development of new perspectives in order to ensure that patient outcomes are ideal and appropriate for patients across a number of different population groups. It is necessary to establish a greater understanding of these challenges and to evaluate the opportunities that clinicians have to diagnose and treat sickle cell disease as early as possible to prevent further complications and improve quality of life within this patient population.

 References

Ballas, S.K., Lieff, S., Benjamin, L.J., Dampier, C.D., Heeney, M.M., Hoppe, C., Johnson, C.S., Rogers, Z.R., Smith-Whitley, K., Wang, W.C., and Telen, M.J. (2007). Definitions of the phenotypic manifestations of sickle cell disease. American Journal of Hematology, 85(1), 6-13.

Delicou, S., and Maragkos, K. (2013). Pain management in patients with sickle cell disease – a review. European Medical Journal of Hematology, 1, 30-36.

Rees, D.C., Williams, T.N., and Gladwin, M.T. (2010). Sickle-cell disease. Lancet, 376, 2018-2031.