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Hemolytic Anemia in G6PD Patients - Case Study Example

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In the paper “Hemolytic Anemia in G6PD Patients,” the author discussed the ingestion of fava beans, which induced an oxidative stress to erythrocytes, causing acute hemolytic anemia. The red blood cells depend solely on this pathway to prevent oxidative damage…
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Hemolytic Anemia in G6PD Patients
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Download file to see previous pages As G6PD converts NADP to NADPH which prevents the oxidative damage to the cells but red blood cells depend solely on this pathway to prevent oxidative damage so R.B.Cs are the most commonly and most severely damaged population of cells due to the deficiency of this enzyme.
 Mark A. Belsey (1973) explained that the G6PD deficiency has got a sex-linked inheritance. The phenotypic expression of the disease a great degree of variability and the reason being the presence of one euchromatic and one heterochromatic chromosome which is inactive is present in the female heterozygous individual. The pattern of X linked inheritance precludes the possibility that inactive X chromosome was either derived from paternal or the maternal side so the presence of mosaicism is essential in which paternal x in inactive in some cells and maternal X is inactive in others. Mark A. Belsey (1973)
 The rigorousness of enzyme deficiency often does not associate well with the clinical severity of genetic diseases. Thus, some G6PD variants linked with rigorous enzyme deficiency, such as Union and Markham, cause no hemolytic problem, while some variants related with less severe deficiency, such as Manchester, Alhambra, and Tripler, cause chronic hemolytic anemia. The kinetic characteristics of these alternative enzymes have not explained the discrepancy. However, assessment of the normal and variant enzymes under pretended physiologic conditions, with the effects of various intermediate metabolites and co-enzymes in red cells being taken into consideration, reveal that the G6PDs from hemolytic variant subjects are strongly inhibited by a physiologic concentration of NADPH because of their high Michaelis constant for NADP or low inhibition constant for NADPH, and they are more sensitive to inhibition by ATP. ...Download file to see next pagesRead More
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