Anemia, cataracts, and seizures in patient with glucose-6-phosphate dehydrogenase deficiency

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Abstract
A Puerto Rican Caucasian boy was found to have severe hemolytic anemia aggravated by salicylates, severe deficiency in glucose-6-phosphate dehydrogenase (G-6-PD) activity of his red cells, cataracts, and an ill-defined neurologic disease. One of the surgically removed eye lenses had diminished G-6-PD activity. The mother demonstrated normal erythrocyte G-6-PD activity, A biphasic red cell population was demonstrated in the mother by the radioactive chromium labeling technique. This suggests 2 populations of cells 1 deficient in G-6-PD activity and the other normal. These findings support the concept of chromosome inactivation as a means of gene dosage compensation in women.

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