Interaction between the Glucose-6-Phosphate Dehydrogenase Deficiency and Thalassaemia Genes at Phenotype Level

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Abstract
Summary. No significant differences were observed in the mean values of Hb A2 levels and red cell indices between G6PD‐ and G6PD+β thalassaemia carriers apart from the MCV, which was significantly higher in β thalassaemia G6PD‐ subjects, but still in the thalassaemia carrier range. No difference was seen between G6PD+ and G6PD‐α thalassaemia carriers. G6PD+β thalassaemia carriers show a significant increase in G6PD levels expressed as activity per g of Hb and to lesser extent as activity per number of red cells x 109; in G6PD+α thalassaemia carriers this increase is statistically significant only when the enzyme levels are expressed as activity per g of Hb. G6PD‐β thalassaemia carriers had enzyme levels higher than non‐thalassaemic G6PD‐ subjects only when the activity is expressed per g of Hb. G6PD activity was found to be increased in G6PD+ and G6PD‐ Hb H disease patients.