New glucose-6-phosphate dehydrogenase mutations from various ethnic groups

E. Beutler, B. Westwood, J. T. Prchal, G. Vaca, C. S. Bartsocas, L. Baronciani

Research output: Contribution to journalArticlepeer-review

Abstract

Seven new mutations that produce glucose 6 phosphate dehydrogenase (G6PD) deficiency are described. Three are in variants that were biochemically characterized and described previously, while four were found in samples that had not been characterized biochemically. Several of the mutations affect the amino acids that are mutated in other G6PD variants. As had been noted previously, variants that are associated with nonspherocytic anemia are located either near the glucose 6 phosphate or the NADP binding sites. Variants more distant from these sites are not associated with chronic hemolysis.

Original languageEnglish
Pages (from-to)255-256
Number of pages2
JournalBlood
Volume80
Issue number1
Publication statusPublished - Jul 1 1992

ASJC Scopus subject areas

  • Hematology

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