Only a few decades ago, the patterns of diseases acquired at a particular age were almost precisely established, making it easier to anticipate certain dysfunctions before reaching their risk groups. However, lately, various external factors have contributed to the rapid increase in those patterns breaking, with children struggling with health conditions expected to appear in adults and even elderly. Because of poor environmental conditions, people are exposed to a greater variety of diseases, increasing the risk of their generic passing to the descendants.
The biggest segment of these diseases is perhaps related to cardiovascular dysfunctions that start bothering individuals at an extremely young age. A prime example of such dysfunction is stroke, i.e., a disease caused either by the blood supply blockage to the brain part or by a blood vessel bursting (CDC, 2020). Although stroke is a common state for adults, more young people, and even children each year struggle with poor blood supply due to sickle cell disease. The primary goal of the following research paper is to estimate the basic causes of sickle cell disease. Moreover, it is of crucial significance analyze one of its most efficient diagnosis methods – transcranial Doppler – on the subject of its effectiveness in terms of disease prevention.
Sickle Cell Disease
Disease Brief Description
One does not have to qualify in medical studies in order to understand that blood circulation in the human body is a key to keep it alive and function properly. However, there exists a group of hematological diseases that disrupt this circulation, causing some major conditions, body malfunction, and even death. The vast majority of such diseases are inherited, making it easier to anticipate yet harder or even impossible to cure.
One of the most widespread notions in this paradigm is sickle cell disease. The very disease is characterized by a process when “abnormal sickle-shaped erythrocytes disrupt blood flow in small vessels, and this vaso-occlusion leads to distal tissue ischaemia and inflammation, with symptoms defining the acute painful sickle-cell crisis” (Ware et al., 2017, p. 311). As a result, people who struggle with this health condition are at a higher risk of early mortality, as their organs are being constantly damaged by sickling and anemia. The disease is primarily caused by the homozygosity of the hemoglobin (HbS) gene (Ware et al., 2017). Moreover, disease development might also be affected by some external factors like climate or environment, making it harder to define the proper treatment patterns for the patients.
Incidence and Treatment
Considering the fact that sickle cell disease is a genetic disease, the average health issue incidence is calculated among the newborn children who have a predisposition for the blood circulation malfunction. Hence, according to the statistical data, approximately 300,000 infants worldwide are born with sickle cell anemia every year, with the incidence dynamics steadily rising over the past years (Piel et al., 2017). Speaking of the disease prevalence, the vast majority of cases are reported in the countries of sub-Saharan Africa, the Middle East, and India. The theories aimed at justifying such distribution date back to the 1950s when scholars were trying to explain the phenomenon through the concepts of malaria and natural selection (Piel et al., 2017). However, despite all the factors, the disease dissemination rates will increase in developed and developing countries during the next few years. Still, the variety of treatment methodologies outlined in the developed countries contribute to the significant increase in the life expectancy of people affected.
Since the beginning of the 21st century, scholars have identified several methods to deal with sickle cell disease, aiming at minimizing its destructive effect on the human body and brain function in particular. The overall attempts were divided into two final destinations, with some scholars trying to define the procedure that could cure the disease in its genesis by gene transformation. Other scientists, however, were pursuing the goal of preventing major diseases that might be caused by the following disorder. Speaking of the first scholarly approach, the treatment process eventually consisted of two treatment procedures:
- Stem cell transplantation. The curing method presupposes the transplantation of match-related cells to patients with sickle cell disease (Gardner, 2018). While being the only way to cure the disease, the method is replete with controversies regarding the patient selection and treatment process. To begin with, patients who have already had strokes or experienced severe disease complications, are the ones most likely to undergo the transplantation. Moreover, the patients’ survival rate is highly dependant on the cells compatibility, with an absolute priority given to the patients matching cells with siblings and relatives. Hence, while the procedure itself is a valuable tool in terms of sickle cell disease, it requires further examination considering the efficiency increase among the patients affected by the condition.
- Gene therapy. Over the past years, scholars have made some significant achievements in the field of generic studies, making it possible to find exhaustive information from people’s DNA and modifying actual genomes. Thus, since sickle cell disease is a genetically inherited health condition, one of the treatment ways is inevitably correlated with systems that edit genomes responsible for the red blood cells (Gardner, 2018). Such a method is a promising option in terms of sickle cell disease treatment, yet it still needs more scientific investigation in order to make it more accessible to the patients.
The other methodologies, on the other hand, are more focused on the process of severe disease prevention by performing timely screening and pill therapy. Scholars pay significant attention to the examination of the hemodynamics in real life in order to mitigate such serious complications as stroke. One of the most successful inventions in the context is the transcranial Doppler (TCD) system that emerged more than two decades ago.
Transcranial Doppler System
History and Definition
According to the definition complied by Sharma et al. (2016), TCD is a “neuroimaging technique that investigates intracranial arteries for the presence of an atherosclerotic stenosis” (p. 124). Briefly speaking, the following screening procedure is aimed at identifying risks of blood circulation malfunction in the brain that could potentially lead to stroke. The rapid expansion of the procedure execution traces back to the 1990s when the first child examination was held in order to track sickle cells on the subject of stroke probability (Bernaudin et al., 2019). The principle of the TCD system is based upon the phenomenon outlined by famous mathematician Christian Doppler. According to this principle, the ultrasound waves represented by the red blood cells are intercepted at the angle of zero or 180 degrees, presupposing that these figures do not imply velocity overestimation (Sharma et al., 2016). In case these velocity patterns are distorted, the risk of cerebrovascular complications are recorded, implying further medical diagnostics on the subject of stroke risk.
Complications of Inadequate TCD Screening
When speaking of sickle cell disease, it should be mentioned that one of the major pitfalls of the medical condition relates to the fact that even when checked, the overall probability of stroke could not be properly estimated. The cell interception tends to change rapidly over time, requiring constant medical examination and TCD screening in order to make sure that minor risk is eliminated at the moment. Hence, TCD is one of the major and most significant tools in terms of investigating cerebral blood circulation in children, with malpractice causing brain damage and even death.
In 2017, an empirical study was conducted to outline the primary causes and significance of inadequate TCD when examining children with sickle cell disease. The results of the study have shown that the most widespread causes of such malpractice included low temporal window, lack of patient cooperation, and failure to identify all the vessels (Greenwood et al., 2017). Since most of the aforementioned reasons resonate with the age aspect, one might conclude that there is a strong need to create extended inventory capable of identifying information even more precisely when some of the data is given with some uncertainty.
In terms of the study, it was estimated that 113 participants of the study were exposed to an inadequate TCD screening. Sometime after the screening, 20 participants from the aforementioned group underwent MRI/MRA, which showed the following results (Greenwood et al., 2017):
- Five children experienced silent cerebral infarction;
- Three participants showed evidence of vasculopathy.
The significance of TCD screening could also be explained by the fact that children are prescribed therapy based on the data acquired from the examination. Thus, sickle cell disease patients are either prescribed transfusions or undergone hydroxyurea therapy. The former procedure implies red blood cell transfusion that happens with a certain frequency defined by the practitioner (Adegoke et al., 2018). The latter, on the other hand, presupposes, taking pill medications that increase fetal hemoglobin and decrease the number of attacks during sickle-cell anemia. Researchers claim that nowadays, hydroxyurea therapy is one of the most suitable and efficient ways of handling the stroke risk, while its effectiveness is directly dependent on the treatment contiguity (Adegoke et al., 2018). Hence, taking everything into consideration, one might conclude that when dealing with sickle cell disease, it is one’s duty to make sure that the patient’s condition is regularly checked. Otherwise, the patient, especially when talking about children who were diagnosed with the disease, is at risk of having a stroke or other cerebrovascular complications.
Conclusion
Red blood cell malfunction is nowadays a rapidly increasing concern of the world community regardless of ethnic affiliation, geographical distribution, or socioeconomic status. The health condition, in its turn, while causing a disturbance in the overall body functioning, causes diseases like stroke, often incompatible with normal life. In order to prevent stroke incidence, the researchers have come up with the transcranial Doppler (TCD) system that implies tracking red blood cell interception. However, in order for this procedure to succeed, one should bear in mind that such a process requires consistency and reliance on the treatment process. The major aim of the following paper was to analyze TCD as a tool for stroke prevention. Hence, it was established in the course of research that the screening innovation, when used appropriately, is, by all means, one of the most efficient ways to have control over sickle cell disease.
References
Adegoke, S. A., de Souza Macedo-Campos, R., Braga, J. A. P., Figueiredo, M. S., & Silva, G. S. (2018). Changes in transcranial Doppler flow velocities in children with sickle cell disease: the impact of hydroxyurea therapy. Journal of Stroke and Cerebrovascular Diseases, 27(2), 425-431.
Bernaudin, F., Verlhac, S., de Latour, R. P., Dalle, J. H., Brousse, V., Petras, E.,… & Divialle-Doumdo, L. (2019). Association of matched sibling donor hematopoietic stem cell transplantation with transcranial Doppler velocities in children with sickle cell anemia. Jama, 321(3), 266-276.
CDC. (2020). Stroke. Web.
Gardner, R. V. (2018). Sickle cell disease: advances in treatment. Ochsner Journal, 18(4), 377-389.
Greenwood, S., Deane, C., Rees, O. L., Freedman, B., Kumar, S., Ben Ramadan, N.,… & Height, S. E. (2017). The significance of inadequate transcranial Doppler studies in children with sickle cell disease. Plos one, 12(7), e0181681.
Piel, F. B., Steinberg, M. H., & Rees, D. C. (2017). Sickle cell disease. New England Journal of Medicine, 376(16), 1561-1573.
Sharma, V. K., Wong, K. S., & Alexandrov, A. V. (2016). Transcranial Doppler. In Intracranial atherosclerosis: pathophysiology, diagnosis and treatment (Vol. 40, pp. 124-140). Karger Publishers.
Ware, R. E., de Montalembert, M., Tshilolo, L., & Abboud, M. R. (2017). Sickle cell disease. The Lancet, 390(10091), 311-323.