Assignment: Diagnosing Spherocytosis
Assignment: Diagnosing 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.
Diagnosis
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
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
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Genetics Home References. (2019) Hereditary Spherocytosis
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