Validating the assessment of glucose 6 phosphate dehydrogenase g6pd Wank buddy webcam
Despite decades of research, our understanding of the molecular pathogenesis of G6PD deficiency in the RBC is incomplete.
While many functional allelic variants of G6PD have been described, it is less well understood how this genetic heterogeneity translates into diversity at the level of molecular and clinical phenotypes.
As many factors influence RBC senescence, it is also important to think of G6PD enzyme deficiency as a population characteristic, dependent on the age distribution of RBCs, where a significant proportion of reticulocytes can impact the measurement of G6PD enzyme activity in hemolysates.
In females that are heterozygous for G6PD deficiency polymorphisms, the picture of cell population variation is even more complicated due to the random X-chromosome inactivation that produces a mosaic population of G6PD-normal and G6PD-deficient RBCs.
Neither genetic nor gross biochemical approaches capture the full picture of G6PD activity.
While genetic typing offers generally unequivocal interpretation of results, it is imperfectly predictive of both molecular and clinical phenotypes.
Screening and diagnosis of G6PD deficiency is currently performed using genetic or biochemical assays, the former being cost ineffective in populations with significant allelic heterogeneity, and the latter being limited in ability to detect female heterozygotes.
In addition, typing multiple polymorphisms may not be cost-effective in resource-poor areas of allelic heterogeneity such as West Africa, Southeast Asia, or Oceania.
Conversely, while gross biochemical approaches offer a functional assessment of G6PD deficiency, they are often difficult to interpret, especially for mosaic female heterozygotes, and insufficiently scalable.
Gross biochemical typing of G6PD involves either direct or indirect measures of enzyme activity in hemolysates.
Direct tests are those that assess the enzyme's production of NADPH, which absorbs (340 nm) and fluoresces (450 nm) at characteristic wavelengths of light.