Discuss Autosomal Recessive Manner

Discussion: Ethical Case Studies
April 18, 2022
Discuss Multiphasic Personality Inventory
April 18, 2022

Discuss Autosomal Recessive Manner

Discuss Autosomal Recessive Manner
Discussion: Autosomal Recessive Manner
Discussion: Autosomal Recessive Manner


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.

Anabella Caradonna


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.

You must proofread your paper. But do not strictly rely on your computer’s spell-checker and grammar-checker; failure to do so indicates a lack of effort on your part and you can expect your grade to suffer accordingly. Papers with numerous misspelled words and grammatical mistakes will be penalized. Read over your paper – in silence and then aloud – before handing it in and make corrections as necessary. Often it is advantageous to have a friend proofread your paper for obvious errors. Handwritten corrections are preferable to uncorrected mistakes.

Use a standard 10 to 12 point (10 to 12 characters per inch) typeface. Smaller or compressed type and papers with small margins or single-spacing are hard to read. It is better to let your essay run over the recommended number of pages than to try to compress it into fewer pages.

Likewise, large type, large margins, large indentations, triple-spacing, increased leading (space between lines), increased kerning (space between letters), and any other such attempts at “padding” to increase the length of a paper are unacceptable, wasteful of trees, and will not fool your professor.

The paper must be neatly formatted, double-spaced with a one-inch margin on the top, bottom, and sides of each page. When submitting hard copy, be sure to use white paper and print out using dark ink. If it is hard to read your essay, it will also be hard to follow your argument.