Erythrocyte Glucose-6-phosphate Dehydrogenase Activity in Haemoglobin H Disease

Abstract

THE occurrence of erythrocyte glucose-6-phosphate dehydrogenase deficiency in patients with haemoglobin H disease was first reported by Ramot, Sheba, Fisher, Ager and Lehmann¹ and Vella². The former investigators considered the association in their patient to be coincidental, but Vella² reported that three of his six patients with haemoglobin H disease were deficient in this enzyme. Using the assay method of Kornberg and Horecker⁸ we have determined the erythrocyte glucose-6-phosphate dehydrogenase levels in twenty consecutive, but unrelated, Chinese patients (eight males and twelve females) with haemoglobin H disease and found only one female to be enzyme deficient. The association of these two defects is therefore not so common as would appear from the report by Vella². Although the number of patients investigated is not large, the incidence of erythrocyte glucose-6-phosphate dehydrogenase deficiency in haemoglobin H disease is probably not greater than that in the population —5.5 per cent in males⁴ and 8.4 per cent in females (using calculations described by Allison⁵ and assuming that approximately only 80 per cent of female heterozygotes are identified by the assay procedure⁶).