Glucose-6-phosphate Dehydrogenase Laboratory Assay: How, When, and Why?

被引：115

作者：

Minucci, Angelo ^{[1
]}

Giardina, Bruno ^{[1
]}

Zuppi, Cecilia ^{[1
]}

Capoluongo, Ettore ^{[1
]}

机构：

[1] Catholic Univ, Dept Biochem & Clin Biochem, Lab Clin Mol Biol, I-00168 Rome, Italy

来源：

IUBMB LIFE | 2009年 / 61卷 / 01期

关键词：

G6PD assay; favism; molecular test; diagnosis; pyruvate kinase; G6PD/6PGD; RAPID DETECTION; G6PD MUTATIONS; GENE-MUTATIONS; DEFICIENCY; ANEMIA;

D O I：

10.1002/iub.137

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Glucose 6-phosphate dehydrogenase (G6PD) deficiency is the most common defect of red blood cells. Although some different laboratory techniques or methods are employed for the biochemical screening, a strict relationship between biochemists, clinicians, and molecular biologists is necessary for a definitive diagnosis. This article represents an overview on the current laboratory tests finalized to the screening or to the definitive diagnosis of G6PD-deficiency, underlying the problems regarding the biochemical and molecular identification of heterozygote females other than those regarding the standardization of the clinical and laboratory diagnostic procedures. Finally, this review is aimed to give a flow-chart for the complete diagnostic approach or G6PD-deficiency. (C) 2008 IUBMB

引用

页码：27 / 34

页数：8

共 42 条

[1]

[Anonymous], 1989, B WORLD HEALTH ORGAN, V67, P601

[2] Solution of the structure of tetrameric human glucose 6-phosphate dehydrogenase by molecular replacement [J].

Au, SWN ;

Naylor, CE ;

Gover, S ;

Vandeputte-Rutten, L ;

Scopes, DA ;

Mason, PJ ;

Luzzatto, L ;

Lam, VMS ;

Adams, MJ .

ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY, 1999, 55 :826-834

[3] Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Tunisia [J].

Ben Daoud, B. ;

Mosbehi, I. ;

Prehu, C. ;

Chaouachi, D. ;

Hafsia, R. ;

Abbes, S. .

PATHOLOGIE BIOLOGIE, 2008, 56 (05) :260-267

[4]

BETKE K, 1979, WHO TECHN REP SER, V366, P1

[5]

BEUTLER E, 1989, BLOOD, V74, P2550

[6] INTERNATIONAL COMMITTEE FOR STANDARDIZATION IN HEMATOLOGY - RECOMMENDED SCREENING-TEST FOR GLUCOSE-6-PHOSPHATE-DEHYDROGENASE (G-6-PD) DEFICIENCY [J].

BEUTLER, E ;

BLUME, KG ;

KAPLAN, JC ;

LOHR, GW ;

RAMOT, B ;

VALENTINE, WN .

BRITISH JOURNAL OF HAEMATOLOGY, 1979, 43 (03) :465-467

[7]

Beutler E., 1984, INC ORLANDO FL, V3rd

[8] Kernicterus: Epidemiological strategies for its prevention through systems-based approaches [J].

Bhutani V.K. ;

Johnson L.H. ;

Maisels M.J. ;

Newman T.B. ;

Phibbs C. ;

Stark A.R. ;

Yeargin-Allsopp M. .

Journal of Perinatology, 2004, 24 (10) :650-662

[9] Gluclose-6-phosphate dehydrogenase deficiency [J].

Cappellini, M. D. ;

Fiorelli, G. .

LANCET, 2008, 371 (9606) :64-74

[10] Evaluation of glucose-6-phosphate dehydrogenase stability in blood samples under different collection and storage conditions [J].

Castro, SM ;

Weber, R ;

Dadalt, V ;

Santos, VF ;

Reclos, GJ ;

Pass, KA ;

Giugliani, R .

CLINICAL CHEMISTRY, 2005, 51 (06) :1080-1081

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