A NOVEL SINGLE-BASE MUTATION IN THE GLUCOSE-6-PHOSPHATE-DEHYDROGENASEGENE IS ASSOCIATED WITH CHRONIC NON-SPHEROCYTIC HEMOLYTIC-ANEMIA

More then 80 variants of glucose-6-phosphate dehydrogenase (G6PD) are associated with chronic nonspherocytic haemolytic anaemia (CNSHA); how ever, the molecular basis of this association is not fully understood. We have used the polymerase chain reaction and nucleotide sequence an alysis to characterize a new G6PD variant, which we designate as G6PD Bari, in a G6PD-deficientt boy affected by CNSHA. A single mutation le ading to an amino-acid substitution was detected in the GGPD coding re gion, viz. a C-->T transition at position 1187 predicting leucine at r esidue 396 in the enzyme; proline is invariably present in evolutionar y distant G6PD molecules at this position. Inheritance in the patient' s family was demonstrated by the polymerase chain reaction followed by diagnostic restriction enzyme analysis. The C-->T transition responsi ble for GGPD Bari maps close to several other mutations previously ide ntified in GGPD variants associated with CNSHA.