Hereditary Spherocytosis Discussion Assignment
Hereditary Spherocytosis Discussion Assignment
APA Style Paper
Topic: Genetic tests have improved the prevalence of Hereditary Spherocytosis.
Hypothesis: 2 – 3 pages
– Comparing two different studies that compares countries with high vs low prevalence with the genetic disease of hereditary spherocytosis. (Example: European countries vs Asian or North American countries)
Results: Make a statement 1-2 pages
– Tell how the two studies used statistics to prove an improvement in helping people who are getting genetic disease.
– Talk about the mechanism of action.
Conclusion : 2-3 pages
– Restate the results
– Why is the 2 types of research important?
– How the disease is being controlled. Any increase in patients getting better.
– Limitations of the study. (No study is perfect)
– New researching on the field of hereditary Spherocytosis.
Argument ( End of Paper) 1 Paragraph
– If research would of being found out earlier for newborns the genetic disease can have a better outcome.
HEREDITARY SPHEROCYTOSIS 2
West Coast University
The long term outlook of people with hereditary spherocytosis is excellent in terms of treatment. The management and treatment of the condition rely on the severity of the disease. At the mild stage, a person may not have any symptoms unless the environment triggers such signs. In most cases, there is no therapy provided other than monitoring and managing symptoms related to anemia and other signs. Adequate data related to life expectancy about the condition seems to be limited. According to Manciu, Matei, & Trandafir (2017)” In all people who undergo splenectomy, there is a lifelong, increased risk of developing a life-threatening infection (sepsis). Although most septic episodes have been observed in children whose spleens were removed in the first years of life, older children and adults also are susceptible. Fortunately, taking certain precautions can reduce this risk and can prevent minor infections from becoming life-threatening” (p. 110-116)
Hereditary spherocytosis is an illness that adversely affects red blood cells. Individuals suffering from hereditary spherocytosis usually experience a shortage of red blood cells that results in the condition known as anemia. According to Manciu, Matei and Trandafir (2017) “Hereditary spherocytosis occur in 1 in 2,000 individuals of Northern European ancestry. This condition is the most common cause of inherited anemia in that population. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common” (p. 110-116). Infants are adversely affected by this condition; however, at the age of 1, the condition begins fading away. Some of the signs related to the state include yellowish of an eye and even skin. The patient also experiences an enlarged spleen a condition that is commonly referred to as splenomegaly. While some symptoms fade away after the newborn baby is born, some states such as splenomegaly persist even in adulthood.
More than half of individuals affected by the disease develop hard deposits in the gallbladder known as the gallstones which present from late childhood to adulthood. According to the Manciu, Matei, & Trandafir (2017) “There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form” (p. 110-116). The study also holds that 20 to 30 per cent of individuals have what is known as the mild form of hereditary spherocytosis.in addition it is also estimated that 60 to 70 per cent of people are suffering from the moderate form of genetic spherocytosis.10% of patients are also suffering from moderate/severe form of hereditary spherocytosis and only three to five per cent of people are suffering from severe form of hereditary spherocytosis.
Individuals with a mild form of anemia at times a person might not show any symptom at all. On the other hand, individuals with a moderate type of hereditary spherocytosis show symptoms such as jaundice, anemia and splenomegaly. Llaudet‐Planas states “The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia” (Llaudet‐Planas et al. 2018). Moreover, people who have the severe form of hereditary spherocytosis tends to suffer from adverse anemia, jaundice and frequently requires a blood transfusion to constant supply red blood cells. The severe form can lead to the development of threatening gallstones. More so, people who have severe form tend to be short in stature, develop skeletal abnormalities and end up having delayed sexual development. Hereditary Spherocytosis Discussion Assignment
Hereditary spherocytosis is caused by the mutation that occurs in more than five genes in the body. The genes which happen to deliver instruction to produce the proteins located in the red blood cells. The typical protein happens to transport the molecules in or out of the dell and attach to the other cell as they maintain what is known as cell structure. The protein also permits the flexibility of the cell. Red blood cell must be flexible to transport or travel in the arteries to other vessels that might be smaller. Proteins also permit the cell top to alter or change its shape without being damaged as it passes through the small or narrow capillaries. Christensen, Yaish and Gallagher (2015) states “Mutations in red blood cell membrane proteins result in an overly rigid, misshapen cell. Instead of a flattened disc shape, these cells are spherical. Dysfunctional membrane proteins interfere with the cell’s ability to change shape when travelling through the blood vessels. The misshapen red blood cells, called spherocytosis, are removed from circulation and taken to the spleen for destruction” (p. 1107-1114). Inside the spleen, red blood cell undergoes the process known as hemolysis. Limitation of the red blood cell during the process of circulation and the excessiveness of the spleen are the root cause of the hereditary spherocytosis. Besides, the mutation that occurs in the AK1 gene is accountable for half of all the reasons for hereditary spherocytosis. Other genes are responsible for the smaller part of transmitting or development of spherocytosis.
More than seventy per cent of hereditary spherocytosis cases is usually inherited in what is known as autosomal form. It simply means that having, the mutation in one copy of the responsible gene in every cell is adequate to lead to several features of the condition. In another scenario, an affected person receives or inherits the mutated gene from the affected parent. In some scenes, the individual can get the disease without having any family history of the condition. Such cases are known as the de novo mutation. Christensen, Yaish, & Gallagher (2015) state, “When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation (p. 1107-1114)” At some point hereditary spherocytosis in inherited in autosomal recessive manner, however, it is not shared. In this, the affected individual must possess both copies of the responsible gene in every cell. The affected individual inherits a mutated copy of the gene from each parent who is also known as a carrier. Carriers of such genes do not have any signs of the diseases or the condition. Such people are never affected by hereditary spherocytosis.
Diagnosing spherocytosis can be hard just like any other genetic diseases. The first thing medical practitioner does is take a look at one’s medical history, symptoms, conduct a physical examination and carry out the lab tests to make up a diagnosis.
The treatment of the condition depends on the severity of the diseases. There is a different recommendation on how medicine is conducted concerning the stage of the hereditary spherocytosis. Folate therapy is usually recommended for those with moderate/severe form. However, some doctors recommend this form of treatment with people who have a mild way. In case of severe anemia, red blood cells transfusion is recommended (Christensen, Yaish, & Gallagher, 2015). Red blood cell transfusion is mostly recommended for the patient who is pregnant or in the first years of life. In case the red blood cell transfusion is required frequently, then iron-chelating therapy is recommended as it reduces the iron overload. Anemi and gallstone should be monitored and managed regularly. The spleen can only be removed in the case of the severe hereditary spherocytosis. Removal of the spleen is not recommended in the case of the mild form hereditary spherocytosis. Hereditary Spherocytosis Discussion Assignment
Christensen, R. D., Yaish, H. M., & Gallagher, P. G. (2015). A paediatrician’s practical guide to diagnosing and treating hereditary spherocytosis in neonates. Paediatrics, 135(6), 1107-1114.
Llaudet‐Planas, E., Vives‐Corrons, J. L., Rizzuto, V., Gómez‐Ramírez, P., Sevilla Navarro, J., Coll Sabina, M. T., … & Dapena, J. L. (2018). Osmotic gradient ektacytometry: a valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. International journal of laboratory haematology, 40(1), 94-102.
Manciu, S., Matei, E., & Trandafir, B. (2017). Hereditary spherocytosis-diagnosis, surgical treatment and outcomes. A literature review. Chirurgia (Bucur), 112(2), 110-116.
Bolton‐Maggs, P. H. B., Langer, J. C., Iolascon, A., & Tittensor, P. (2011, November 5). Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update – Bolton‐Maggs – 2012 – British Journal of Haematology – Wiley Online Library. Retrieved from https://onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2141.2011.08921.xe
· This journal talks about some of the recommended guidelines for the diagnosis of Hereditary Spherocytosis and managements for present and future cases. The journal informed with important information such as replaced to reflect changes in current opinion on the surgical management which are particular indications for concomitant splenectomy with cholecystectomy in children with mild HS, and concomitant cholecystectomy with splenectomy in those with asymptomatic gallstones. Advances have been made int the journals comprehension of the natural chemistry of the red cell film which supports the selection of tests. Biochemical tests of layers proteins and hereditary investigation might be demonstrated (once in a while) to analyze atypical cases. The analytic estimation of the eosin‐5‐maleimide (EMA) restricting test has been approved in various examinations with comprehension of its constraints.
Genetics Home References. (2019) Hereditary Spherocytosis. Retrieved from https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis# inheritance.
Hereditary Spherocytosis (Spherocytic Anemia). (2019, June 26). Retrieved from https://www.onkopedia-guidelines.info/en/onkopedia/guidelines/hereditary-spherocytosis-spherocytic-anemia/@@guideline/html/index.html.
Hereditary Spherocytosis. (2019, May 30). Retrieved from htt ps://emedicine.medscape.com/article/206107-overview.
Hereditary Spherocytosis. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/anemia-hereditary-spherocytic-hemolytic/
Hereditary Spherocytosis. (n.d.). Retrieved from https://www.childrensmn.org/services/care-specialties-departments/cancer-blood-disorders/conditions-and-services/blood-disorders-services/hemoglobinopathy-sickle-cell/hs/
Noun, P., Kabbara, N., Salloum, C., Kmeid, M., Sadek, M., Kahale, M., & Abbas, H. A. (2013, November 15). A Multicenter Study On Hereditary Spherocytosis In Lebanon. Retrieved from http://www.bloodjournal.org/content/122/21/4661?sso-checked=true
Pugi, J., Drury, L. J., Langer, J. C., Butchart, S., Fantauzzi, M., Baker, J., … Carcao, M. (2016, December 2). Genotype/Phenotype Correlations in 103 Children from 87 Families with Hereditary Spherocytosis. Retrieved from http://www.bloodjournal.org/content/128/22/2432?sso-checked=true
· This article talks about Genotype/Phenotype correlations in 103 children from different families about 87 with the genetic disease Hereditary Spherocytosis. The aim of the paper was to inform the percent and the number of children with HS and how it represents one of the largest and most comprehensive genetic analyses of a cohort of HS patients. Their findings will add to the growing understanding of the disease and is very important to provide the information to other cases and possible future cases. In that case they found that mutations in ANK1 were most common out of the 50 children / 43 families fallowed by other type of mutations. Most of transformations in the patients were hogwash, frameshift, or join site changes. Apart from this, there is nothing else from this paper that I think would be necessary for my review paper since it gave lots of information that would conclude that Hereditary Spherocytosis is affecting the population in most cases which are children. Hereditary Spherocytosis Discussion Assignment
Soo, H., Kyong, Shin4, H. Y., Kang4, H. J., Kook7, H., Seon Young Kim8, S.-J. K., … Kim5, J. H. (2019, May 23). Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte. Retrieved from https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1070-0
Wang, C., Cui, Y., Li, Y., Liu, X., & Han, J. (2015, May). A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428190/
· This paper summarizes epidemiological information of hereditary spherocytosis in china is very uncommon, as well as the number of cases of HS reported in China Biology Medicine disc from 1978 to 2013. Altogether, 2,043 cases were accounted to the previous 36 years. The article describes the distribution from time and space. All outcomes recommend a more grounded system of conclusion and treatment including all degrees of medical clinics ought to be made to improve medicinal services for genetic spherocytosis and even other uncommon illnesses later on, then we can get progressively helpful data for vagrant medication assignment purposes and settle on general wellbeing choices in regards to such sicknesses using the weight of ailment models. Hereditary Spherocytosis Discussion Assignment