ImmunoDeficiency Resource (IDR)

The presentation is similar to that of CGD, when less than 5% enzyme activity is present. Most patients are asymptomatic. Some patients present with or report a history of neonatal jaundice, often requiring exchange transfusion. A history of infection or drug-induced hemolysis is also common. Gallstones may be a prominent feature. Splenomegaly may be present. The red blood cells of individuals with defective or inactive glucose dehidrogenase tend to undergo hemolysis (the loss of hemoglobin through the damaged membrane) causing anemia. Haemolytic anemia can be triggered by certain foods (fava beans) and drugs (sulphones such as dapsone, primaquines, salicylates). NBT test is diagnostic and the enzyme activity can be measured. Deficiency of glucose-6-phosphatase dehydrogenase is associated with hemolytic anemia in two different situations. First, in areas in which malaria has been endemic, glucose-6-phosphatase dehydrogenase deficiency alleles have reached high frequencies (1% to 50%) and deficient individuals, though essentially asymptomatic in the steady state, have a high risk of acute hemolytic attacks. Sporadic cases of glucose 6-phosphate dehydrogenase deficiency occur at a very low frequencies, and they usually present a more severe phenotype, namely chronic nonspherocytic hemolytic anemia (CNSHA).