Modification to reporting of qualitative fluorescent spot test results improves detection of glucose-6-phosphate dehydrogenase (G6PD)-deficient heterozygote female newborns

International Journal of Laboratory Hematology

Volumn 33, Issue 5, 2011, Pages 463-470

  Nadarajan, V ^a   Shanmugam, H ^a   Sthaneshwar, P ^a   Jayaranee, S ^a   Sultan, K S ^b   Ang, C ^b   Arumugam, S ^b  

^a UNIVERSITY OF MALAYA   (Malaysia)

^b UNIVERSITY MALAYA MEDICAL CENTRE   (Malaysia)

Author keywords

Fluorescent spot test; G6PD deficiency; Newborn screening; Quantitative G6PD assay; Taqman genotyping

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ARTICLE; BLOOD SAMPLING; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; FLUORESCENCE; FLUORESCENT SPOT TEST; GENE MUTATION; GENOTYPE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ALLELES; ENZYME ACTIVATION; FEMALE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING;

EID: 80051928165     PISSN: 17515521     EISSN: 1751553X     Source Type: Journal    
DOI: 10.1111/j.1751-553X.2011.01309.x     Document Type: Article

References (17)

1. Ainoon O., Alawiyah A., Yu Y.H., Cheong S.K., Hamidah N.H., Boo N.Y. & Zaleha M. (2003a) Semiquantitative screening test for G6PD deficiency detects severe deficiency but misses a substantial proportion of partially-deficient females. Southeast Asian Journal of Tropical Medicine and Public Health 34, 405-414.
2. Ainoon O., Yu Y.H., Muhriz Amir A.L., Boo N.Y., Cheong S.K. & Hamidah N.H. (2003b) Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays. Human Mutation 21, 101.
3. Ainoon O., Boo N.Y., Yu Y.H., Cheong S.K., Hamidah H.N. & Lim J.H. (2004) Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates. Malaysian Journal of Pathology 26, 89-98.
4. Beutler E. (2008) Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood 111, 16-24.
5. Beutler E. & Mitchell M. (1968) Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. Blood 32, 816-818.
6. Beutler E., Blume K.G., Kaplan J.C., Lohr G.W., Ramot B. & Valentine W.N. (1977) International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis. British Journal Haematology 35, 331-340.
7. Cappellini M.D. & Fiorelli G. (2008) Glucose-6-phosphate dehydrogenase deficiency. Lancet 371, 64-74.
8. Corchia C., Balata A., Meloni G. & Meloni T. (1995) Favism in a female newborn infant whose mother ingested fava beans before delivery. Journal of Pediatrics 127, 807-808.
9. Kattamis C., Kyriazakou M. & Chaidas S. (1969) Favism: clinical and biochemical data. Journal of Medical Genetics 6, 34-41.
10. Meloni T., Forteleoni G., Dore A. & Cutillo S. (1983) Neonatal hyperbilirubinaemia in heterozygous glucose-6-phosphate dehydrogenase deficient females. British Journal Haematology 53, 241-246.
11. Peters A. & Noorden Van C.F. (2009) Glucose-6-phosphate dehydrogenase deficiency and malaria: cytochemical detection of heterozygous G6PD deficiency in women. Journal of Histochemistry and Cytochemistry 57, 1003-1011.
12. Poggi V., Town M., Foulkes N.S. & Luzzatto L. (1990) Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA. Biochemical Journal 271, 157-160.
13. Reclos G.J., Hatzidakis C.J. & Schulpis K.H. (2000) Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening. Journal of Medical Screening 7, 46-51.
14. Sanna G., Virgiliis De S., Palmas C., Argiolu F., Frau F. & Cao A. (1979) Favism in Gd Mediterranean heterozygous females. Pediatric Research 13, 812-816.
15. Wang F.L., Boo N.Y., Ainoon O. & Wong M.K. (2009) Comparison of detection of glucose-6-phosphate dehydrogenase deficiency using fluorescent spot test, enzyme assay and molecular method for prediction of severe neonatal hyperbilirubinaemia. Singapore Medical Journal 50, 62-67.
16. Who Working Group (1989) Glucose-6-phosphate dehydrogenase deficiency. Bulletin of the World Health Organization 67, 601-611.
17. Zaffanello M., Rugolotto S., Zamboni G., Gaudino R. & Tato L. (2004) Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females. European Journal of Epidemiology 19, 255-257.