A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia

Stefonia Filosa, Wangwie Cai, Renzo Galanello, Antonio Cao, Domenico De Mattia, Frnacesco Schettini, Giuseppe Martini

Research output: Contribution to journalArticlepeer-review

Abstract

More then 80 variants of glucose-6-phosphate dehydrogenase (G6PD) are associated with chronic non-spherocytic haemolytic anaemia (CNSHA); however, the molecular basis of this association is not fully understood. We have used the polymerase chain reaction and nucleotide sequence analysis to characterize a new G6PD variant, which we designate as G6PD Bari, in a G6PD-deficient boy affected by CNSHA. A single mutation leading to an amino-acid substitution was detected in the G6PD coding region, viz. a C→T transition at position 1187 predicting leucine at residue 396 in the enzyme; proline is invariably present in evolutionary 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 responsible for G6PD Bari maps close to several other mutations previously identified in G6PD variants associated with CNSHA.

Original languageEnglish
Pages (from-to)560-562
Number of pages3
JournalHuman Genetics
Volume94
Issue number5
DOIs
Publication statusPublished - Nov 1994

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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