Abstract
Since the discovery by Carson et al. [3] of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients with primaquine-induced hemolytic crisis, more than 20 different red cell enzymopathies with red cell dysfunction have been described. In addition several metabolic diseases can be diagnosed through detection of a specific enzyme defect in red cells, but do not alter red cell function and viability or normal oxygen carriage and delivery to the tissues. The main progress made during recent years in knowledge of the earlier described enzyme disorders concerns molecular and genetic mechanisms of the defects and the relationship between molecular anomalies, red cell dysfunction and pathological expression. In some instances, such as for G6PD, pyruvate kinase (PK) and glucose phosphate isomerase (GPI), the association of secondary postsynthetic modifications with the genetic primitive alteration has been pointed out. Finally, some new enzyme disorders with congenital nonspherocytic hemolytic anemia (CNSHA) have been described, and the percentage of CNSHA of unknown cause is continuously decreasing.
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Kahn, A. (1979). Advances in Hereditary Red Cell Enzyme Abnormalities. In: Gross, R., Hellriegel, KP. (eds) Strategies in Clinical Hematology. Recent Results in Cancer Research / Fortschritte der Krebsforschung / Progrès dans les recherches sur le cancer, vol 69. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-81371-9_9
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DOI: https://doi.org/10.1007/978-3-642-81371-9_9
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