Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants

Gemino Fiorelli, Franco Martinez Di Montemuros, Maria Domenica Cappellini

Research output: Contribution to journalArticle

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in over 400 million people world wide. In a small number of cases, G6PD deficiency can lead to mild-to-severe chronic haemolysis, which is further exacerbated by oxidative stress. Such G6PD variants have been described all over the world and are responsible for chronic non-spherocytic haemolytic anaemia (CNSHA). To date 61 G6PD molecular variants associated with CNSHA have been identified, only some of which can cause the severe reduction in stability of the red blood cell enzyme. The distribution of the different mutations shows a predominance of small mutational events, and many have been found repeatedly in different parts of the world. By revisiting the 61 class 1 variants described so far, we can observe that a low inhibition constant (K i) for NADPH, a higher K m for substrates and a reduced thermostability are common.

Original languageEnglish
Pages (from-to)39-55
Number of pages17
JournalBest Practice and Research: Clinical Haematology
Volume13
Issue number1
DOIs
Publication statusPublished - 2000

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Keywords

  • Chronic anaemia
  • Chronic non-spherocytic haemolytic anaemia
  • DNA mutations
  • Glucose-6-phosphate dehydrogenase
  • Glucose-6-phosphate dehydrogenase variants
  • Haemolysis

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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