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Inherited, non-spherocytic haemolysis due to deficiency of glucose-6-phosphate dehydrogenase
Linköping University, Faculty of Health Sciences. Linköping University, Department of Biomedicine and Surgery, Division of clinical chemistry. Östergötlands Läns Landsting, Centre for Laboratory Medicine, Department of Clinical Chemistry.
2007 (English)In: Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, Vol. 67, no 1, 105-111 p.Article in journal (Refereed) Published
Abstract [en]

The about 400 million individuals worldwide suffering from a hereditary deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD) may experience different degrees of haemolytic anaemia. Haemoglobin is present in very high concentrations in the erythrocyte cytoplasm, at risk of falling out of solution if the internal environment or the haemoglobin itself is changed. G6PD is a crucial enzyme producing reduced glutathione in the erythrocyte cytoplasm for the purpose of protecting haemoglobin against oxidative damage. The presence of unopposed oxidizing agents leading to oxidation of the sulfhydryl bridges between parts of the haemoglobin molecule decrease the solubility of haemoglobin, leading to precipitations called Heinz bodies. The laboratory investigation of G6PD deficiency is commonly done by a quantitative spectrophotometric analysis or by a rapid fluorescent spot test detecting the generation of NADPH from NADP. Genetic tests based on polymerase chain reaction detect specific mutations and may be used for population screening, family studies, or prenatal diagnosis. © 2007 Taylor & Francis.

Place, publisher, year, edition, pages
2007. Vol. 67, no 1, 105-111 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-37642DOI: 10.1080/00365510601047910Local ID: 37025OAI: diva2:258491
Available from: 2009-10-10 Created: 2009-10-10 Last updated: 2011-01-11

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Theodorsson, Elvar
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Faculty of Health SciencesDivision of clinical chemistryDepartment of Clinical Chemistry
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