Interaction between the glucose-6-phosphate dehydrogenase deficiency and thalassaemia genes at phenotype level

Br J Haematol. 1980 Apr;44(4):555-61. doi: 10.1111/j.1365-2141.1980.tb08709.x.

Abstract

No significant differences were observed in the mean values of Hb A2 levels and red cell indices between G6PD- and G6PD+ beta thalassaemia carriers apart from the MCV, which was significantly higher in beta thalassaemia G6PD- subjects, but still in the thalassaemia carrier range. No difference was seen between G6PD+ and G6PD- alpha thalassaemia carriers. G6PD+ beta 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 10(9); in G6PD+ alpha thalassaemia carriers this increase is statistically significant only when the enzyme levels are expressed as activity per g of Hb. G6PD- beta 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.

MeSH terms

  • Erythrocyte Count
  • Erythrocyte Indices
  • Glucosephosphate Dehydrogenase / blood
  • Glucosephosphate Dehydrogenase Deficiency / blood
  • Glucosephosphate Dehydrogenase Deficiency / complications*
  • Glucosephosphate Dehydrogenase Deficiency / genetics
  • Hemoglobin A2 / analysis
  • Heterozygote
  • Humans
  • Male
  • Phenotype
  • Thalassemia / blood
  • Thalassemia / complications*
  • Thalassemia / enzymology
  • Thalassemia / genetics

Substances

  • Hemoglobin A2
  • Glucosephosphate Dehydrogenase