Clinical features

Three types of clinical presentations are well characterized. (1) The vast majority of G6PD-deficient people are asymptomatic most of the time, but they are at risk of developing acute hemolytic anemia, which may be triggered by drugs, infections or fava beans. (2) The risk of developing neonatal jaundice is much greater in G6PD-deficient than in G6PD-normal newborns. This is of great public health importance, because untreated severe neonatal jaundice can lead to permanent neurological damage. (3) In contrast to the first two presentations, chronic non-spherocytic hemolytic anemia (CNSHA) is very rare. The clinical picture is rather similar to CNSHA associated with glycolytic enzymopathies (see above), and again it is of variable severity. However, the hemolysis is characteristically exacerbated by the same agents that can cause acute hemolytic anemia in people with the ordinary type of G6PD deficiency.

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