Molecular pathophysiology

Acute hemolytic anemia is seen with variants of G6PD where by red cells retain some 10% of the normal G6PD activity, resulting in a limited capacity of these cells to withstand the oxidative action of an exogenous factor (oxidative hemolysis). By contrast, with other variants, the steady-state level of G6PD is so low that it becomes limiting for red cell survival, even in the absence of any oxidant challenge; the result is CNSHA. Numerous point mutations in the G6PD gene causing CNSHA have been identified (Figure 12.9). Although we cannot explain the reason for a severe clinical phenotype in every case, a cluster of mutations causing CNSHA in exons 10 and 11 corresponds closely to the region of the molecule where the two subunits interface. It is not surprising that amino acid replacements in this region will interfere with dimer formation or will cause marked instability of the dimer.

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