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Article

Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) with abnormal KmG6P and marked in vivo instability.

British journal of haematology - 1 Jan 1992

Filosa S, Calabrò V, Vallone D, Poggi V, Mason P, Pagnini D, Alfinito F, Rotoli B, Martini G, Luzzatto L

Abstract excerpt

More than 80 genetic variants of glucose-6-phosphate dehydrogenase (G6PD) are associated with chronic non-spherocytic haemolytic anaemia (CNSHA). In order to help clarify the molecular basis of this association, we have carried out a detailed biochemical and genetic characterization of two G6PD deficient brothers affected by CNSHA. The G6PD from the two patients has altered electrophoretic mobility, abnormally...

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PMID: 1536798
DOI: 10.1111/j.1365-2141.1992.tb06409.x

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