Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy

Franco Martinez Di Montemuros, Chiara Dotti, Dario Tavazzi, Gemino Fiorelli, Maria Domenica Cappellini

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

Background. Glucose-6-phosphate dehydrogenase deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogeneity. The molecular bases of almost all polymorphic Italian variants have now been identified and the overall heterogeneity is lower than expected from biochemical data. Methods. We examined 161 G6PD- deficient subjects (130 males and 31 females)originating from different parts of Italy. G6PD activity and molecular characterization were determined in all the subjects analyzed. Results. We found the G6PD Mediterranean genotype in roughly 70%, G6PD Union and G6PD Seattle in about 6% and G6PD A- in 4% of the samples analyzed. G6PD S. Antioco and G6PD Cosenza were less frequent (1.2%), and single cases of G6PD Partenope and G6PD Tokyo were also detected. Conclusions. We report the frequency and distribution of the most common G6PD variants in Italy. Greater molecular heterogeneity than described by others was observed, especially in Sardinia. Among the severe deficient variants, G6PD Mediterranean has a higher prevalence in Sardinia (83%) than in continental Italy (61%), as does G6PD Union (10% and 4%, respectively). G6PD Seattle and A-, associated with mild G6PD deficiency, are by contrast more frequent in continental Italy.

Original languageEnglish
Pages (from-to)440-445
Number of pages6
JournalHaematologica
Volume82
Issue number4
Publication statusPublished - Jul 1997

Fingerprint

Glucosephosphate Dehydrogenase
Italy
Glucosephosphate Dehydrogenase Deficiency
Tokyo
Genotype

Keywords

  • G6PD mutations
  • G6PD variants
  • Molecular characterization

ASJC Scopus subject areas

  • Hematology

Cite this

Martinez Di Montemuros, F., Dotti, C., Tavazzi, D., Fiorelli, G., & Cappellini, M. D. (1997). Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy. Haematologica, 82(4), 440-445.

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy. / Martinez Di Montemuros, Franco; Dotti, Chiara; Tavazzi, Dario; Fiorelli, Gemino; Cappellini, Maria Domenica.

In: Haematologica, Vol. 82, No. 4, 07.1997, p. 440-445.

Research output: Contribution to journalArticle

Martinez Di Montemuros, F, Dotti, C, Tavazzi, D, Fiorelli, G & Cappellini, MD 1997, 'Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy', Haematologica, vol. 82, no. 4, pp. 440-445.
Martinez Di Montemuros F, Dotti C, Tavazzi D, Fiorelli G, Cappellini MD. Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy. Haematologica. 1997 Jul;82(4):440-445.
Martinez Di Montemuros, Franco ; Dotti, Chiara ; Tavazzi, Dario ; Fiorelli, Gemino ; Cappellini, Maria Domenica. / Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy. In: Haematologica. 1997 ; Vol. 82, No. 4. pp. 440-445.
@article{8457a11e934f42f9b2487ed7c67222d7,
title = "Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy",
abstract = "Background. Glucose-6-phosphate dehydrogenase deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogeneity. The molecular bases of almost all polymorphic Italian variants have now been identified and the overall heterogeneity is lower than expected from biochemical data. Methods. We examined 161 G6PD- deficient subjects (130 males and 31 females)originating from different parts of Italy. G6PD activity and molecular characterization were determined in all the subjects analyzed. Results. We found the G6PD Mediterranean genotype in roughly 70{\%}, G6PD Union and G6PD Seattle in about 6{\%} and G6PD A- in 4{\%} of the samples analyzed. G6PD S. Antioco and G6PD Cosenza were less frequent (1.2{\%}), and single cases of G6PD Partenope and G6PD Tokyo were also detected. Conclusions. We report the frequency and distribution of the most common G6PD variants in Italy. Greater molecular heterogeneity than described by others was observed, especially in Sardinia. Among the severe deficient variants, G6PD Mediterranean has a higher prevalence in Sardinia (83{\%}) than in continental Italy (61{\%}), as does G6PD Union (10{\%} and 4{\%}, respectively). G6PD Seattle and A-, associated with mild G6PD deficiency, are by contrast more frequent in continental Italy.",
keywords = "G6PD mutations, G6PD variants, Molecular characterization",
author = "{Martinez Di Montemuros}, Franco and Chiara Dotti and Dario Tavazzi and Gemino Fiorelli and Cappellini, {Maria Domenica}",
year = "1997",
month = "7",
language = "English",
volume = "82",
pages = "440--445",
journal = "Haematologica",
issn = "0390-6078",
publisher = "NLM (Medline)",
number = "4",

}

TY - JOUR

T1 - Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy

AU - Martinez Di Montemuros, Franco

AU - Dotti, Chiara

AU - Tavazzi, Dario

AU - Fiorelli, Gemino

AU - Cappellini, Maria Domenica

PY - 1997/7

Y1 - 1997/7

N2 - Background. Glucose-6-phosphate dehydrogenase deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogeneity. The molecular bases of almost all polymorphic Italian variants have now been identified and the overall heterogeneity is lower than expected from biochemical data. Methods. We examined 161 G6PD- deficient subjects (130 males and 31 females)originating from different parts of Italy. G6PD activity and molecular characterization were determined in all the subjects analyzed. Results. We found the G6PD Mediterranean genotype in roughly 70%, G6PD Union and G6PD Seattle in about 6% and G6PD A- in 4% of the samples analyzed. G6PD S. Antioco and G6PD Cosenza were less frequent (1.2%), and single cases of G6PD Partenope and G6PD Tokyo were also detected. Conclusions. We report the frequency and distribution of the most common G6PD variants in Italy. Greater molecular heterogeneity than described by others was observed, especially in Sardinia. Among the severe deficient variants, G6PD Mediterranean has a higher prevalence in Sardinia (83%) than in continental Italy (61%), as does G6PD Union (10% and 4%, respectively). G6PD Seattle and A-, associated with mild G6PD deficiency, are by contrast more frequent in continental Italy.

AB - Background. Glucose-6-phosphate dehydrogenase deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogeneity. The molecular bases of almost all polymorphic Italian variants have now been identified and the overall heterogeneity is lower than expected from biochemical data. Methods. We examined 161 G6PD- deficient subjects (130 males and 31 females)originating from different parts of Italy. G6PD activity and molecular characterization were determined in all the subjects analyzed. Results. We found the G6PD Mediterranean genotype in roughly 70%, G6PD Union and G6PD Seattle in about 6% and G6PD A- in 4% of the samples analyzed. G6PD S. Antioco and G6PD Cosenza were less frequent (1.2%), and single cases of G6PD Partenope and G6PD Tokyo were also detected. Conclusions. We report the frequency and distribution of the most common G6PD variants in Italy. Greater molecular heterogeneity than described by others was observed, especially in Sardinia. Among the severe deficient variants, G6PD Mediterranean has a higher prevalence in Sardinia (83%) than in continental Italy (61%), as does G6PD Union (10% and 4%, respectively). G6PD Seattle and A-, associated with mild G6PD deficiency, are by contrast more frequent in continental Italy.

KW - G6PD mutations

KW - G6PD variants

KW - Molecular characterization

UR - http://www.scopus.com/inward/record.url?scp=0031452119&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031452119&partnerID=8YFLogxK

M3 - Article

C2 - 9299858

AN - SCOPUS:0031452119

VL - 82

SP - 440

EP - 445

JO - Haematologica

JF - Haematologica

SN - 0390-6078

IS - 4

ER -