Gd(-) Rennes a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France |
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| Authors: | C Picat J Etiemble P Boivin P -Y Le Prise |
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| Institution: | (1) Laboratoire d'Enzymologie des Cellules Sanguines (INSERM U160, ERA 573 CNRS), Hôpital Beaujon, F-92118 Clichy Cédex, France;(2) Clinique Hématologique de l'Hôtel Dieu, F-35033 Rennes Cédex, France |
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| Abstract: | Summary A new variant of G6PD with total enzyme deficiency associated with nonspherocytic hemolytic anemia in a 60 year old Frenchman is characterized. Partially purified enzyme revealed slow electrophoretic mobility, decreased G6P affinity, thermal instability, abnormal pH curve with a single peak at pH 5.0, abnormal utilization of 2-deoxy-G6P and deamino NADP. This variant differs from all previously reported variants associated with chronic nonspherocytic hemolytic anemia. Accordingly this variant is designated Gd(-) Rennes. |
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