Several mutations including two novel mutations of the glucose-6- phosphate dehydrogenase gene in polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism

Ewa Jablonska-Skwiecinska*, Irmina Lewandowska, Danuta Plochocka, Jacek Topczewski, Janusz G. Zimowski, Jolanta Klopocka, Beata Burzynska

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

DNA sequencing revealed seven different glucose-6-phosphate dehydrogenase (G6PD) mutations in G6PD deficient subjects from 10 Polish families. Among them we found two novel mutations: 679C→T (G6PD Radlowo, class 2) and a 1006A→G (G6PD Torun, class 1). Variant G6PD Radlowo was characterized biochemically. Both novel mutations were analyzed using a model of the tertiary structure of the human enzyme. The main chain of G6PD Torun is different from the wild-type G6PD. The remaining mutations identified by us in deficient Polish patients were: 542A→T (G6PD Malaga), 1160G→A (G6PD Beverly Hills), 1178G→A (G6PD Nashville), 1192G→A (G6PD Puerto Limon), and 1246G→A (G6PD Tokyo). Variant Tokyo was found in four families. In one of them favism was the first clinical sign of G6PD deficiency and chronic nonspherocytic hemolytic anemia (CNSHA) was diagnosed later. Variants G6PD Nashville and G6PD Puerto Limon were accompanied by the silent mutation 1311C→T of the G6PD gene.

Original languageEnglish (US)
Pages (from-to)477-484
Number of pages8
JournalHuman mutation
Volume14
Issue number6
DOIs
StatePublished - Dec 22 1999

Keywords

  • Acute hemolytic anemia
  • Chronic nonspherocytic hemolytic anemia
  • Favism
  • G6PD Radlowo
  • G6PD Torun
  • G6PD deficiency in Poland
  • G6PD structure

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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