Genotype-Phenotype Associations for Low Glucose-6-Phosphate Dehydrogenase Activity in Red Blood Cells

Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency.

BACKGROUND AND OBJECTIVES Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocytic enzymatic disorder in Italy and is characterized by wide clinical, biochemical and molecular variability. We studied the clinical and hematologic data from 54 G6PD-deficient, unrelated males from the Apulia region. DESIGN AND METHODS Analyses for enzymatic activity, G6PD electrophores...

Glucose 6-phosphate dehydrogenase deficiency: from genotype to phenotype.

Microfluorometry of glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase in red cells.

A simple microfluorometric method isdescribed for measu ring gIucose-6-phosphate dehyd rogenase (GPD) and 6-phosphogluconate dehydrogenase (PGD) activities in human erythrocytes. Only 50 ,J of whole blood is required. The cells are lysed with digitonin and the rate of NADPH generated in the enzymatic reactions is followed kinetically with a recording fluoromete. GPD activity is measured by subt...

Automated fluorometric determination of glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase (6PGD) activities in red blood cells.

An automated fluorometric microtechnic, suitable for screening purposes, has been developed for the quantitative determination of glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase (6PGD) levels in red blood cells. The method is rapid, simple, and precise. It uses 50 p.I whole-blood (cpillary) samples and is based on the measurement of natural fluorescence emitted by ...

Regulation of glucose-6-phosphate dehydrogenase activity in red blood cells from hemolytic and nonhemolytic variant subjects.