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A well-studied case is that of sickle cell anemia in humans, a hereditary disease that damages red blood cells. Sickle cell anemia is caused by the inheritance of an allele (HgbS) of the hemoglobin gene from both parents. In such individuals, the hemoglobin in red blood cells is extremely sensitive to oxygen deprivation, which results in ...
An example of overdominance in humans is that of the sickle cell anemia.This condition is determined by a single polymorphism.Possessors of the deleterious allele have lower life expectancy, with homozygotes rarely reaching 50 years of age.
The acute chest syndrome is a vaso-occlusive crisis of the pulmonary vasculature commonly seen in people with sickle cell anemia. This condition commonly manifests with a new opacification of the lung(s) on a chest x-ray .
Sickle cell nephropathy is a type of kidney disease associated with sickle cell disease which causes kidney complications as a result of sickling of red blood cells in the small blood vessels. The hypertonic and relatively hypoxic environment of the renal medulla , coupled with the slow blood flow in the vasa recta , favors sickling of red ...
In collaboration with Linus Pauling, Itano used electrophoresis to demonstrate the difference between normal hemoglobin and sickle cell hemoglobin; their 1949 paper "Sickle Cell Anemia, a Molecular Disease" (coauthored also with S. J. Singer and Ibert C. Wells) [2] was a landmark in both molecular medicine and protein electrophoresis, though ...
On 16 December 2021, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) adopted a positive opinion, recommending the granting of a marketing authorization for the medicinal product Oxbryta, intended for the treatment of hemolytic anemia due to sickle cell disease.
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