Hereditary Spherocytosis

Anabella Caradonna

References

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.

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.