Why does the Iranian national program of screening newborns for g6pd enzyme deficiency miss a large number of affected infants?

Pediatric Hematology and Oncology

Volumn 31, Issue 1, 2014, Pages 95-100

  Kosaryan, Mehrnoush ^a   Mahdavi, Mohammad Reza ^a   Jalali, Hossein ^b   Roshan, Payam ^b  

^a MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b Sina Mehr Research Center   (Iran)

Author keywords

Decolorization test; DNA analysis; Fluorescent spot test; G6PD enzyme deficiency; Neonatal screening; Quantitative enzyme assay

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ARTICLE; CONTROLLED STUDY; DECOLORIZATION TEST; DIAGNOSTIC TEST ACCURACY STUDY; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME ASSAY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FEMALE; FLUORESCENT SPOT TEST; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMIZYGOTE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IRAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; PREDICTIVE VALUE; QUANTITATIVE ENZYME ASSAY; UMBILICAL CORD BLOOD;

COLORIMETRY; DIAGNOSTIC ERRORS; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FALSE NEGATIVE REACTIONS; FEMALE; FETAL BLOOD; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HUMANS; INCIDENCE; INFANT, NEWBORN; IRAN; MALE; NATIONAL HEALTH PROGRAMS; NEONATAL SCREENING; OXIDATION-REDUCTION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREDICTIVE VALUE OF TESTS; PROGRAM EVALUATION; REAGENT KITS, DIAGNOSTIC; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84893337473     PISSN: 08880018     EISSN: 15210669     Source Type: Journal    
DOI: 10.3109/08880018.2013.871613     Document Type: Article

References (13)

1. WHOWorkingGroup.Glucose-6-phosphate dehydrogenase deficiency. BullWHO.1989;67:601-611.
2. FarhudDD,YazdanpanahL.Glucose-6-phosphate dehydrogenase (G6PD)Deficiency. Iranian JPubl Health. 2008;37(4):1-18.
3. Mahdavi MR, KosaryanM,Mortazavi A, et al.The screening of G6PD deficiency in newborns of Sari, 1996. J Mazandaran UnivMed Sci. 1997; 8: 22-24.
4. Zahedpasha Y, Ahmadpour M, Zahedpasha A. Glucose-6-phosphate dehydrogenase deficiency. J Babol UnivMed Sci. 2006;8:114-122.
5. Beutler E. Study of G6PD: history andmolecular biology. Am J Hematol. 1993;42(1):53-58.
6. Beutler E. G6PD deficiency. Blood. 1994;84(11):3613-3636.
7. Beutler E, Vulliamy T. Hematologically importantmutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis. 2002;28(2):93-103.
8. Kosaryan M, Nasehi MM, Karami H, et al. Neonatal screening for G6PD deficiency in Mazandaran province, Iran 2007-2010. IJBC. 2011;3:113-116.
9. Ainoon O, Alawiyah A, Yu YH, et al. Semi quantitative screening test for G6PD deficiency detects severe deficiency but misses a substantial proportion of partially-deficient females. Southeast Asian J TropMed Public Health. 2003;34(2):405-414.
10. Cohan N, Karimi M, Khalili AH, et al. The efficacy of a neonatal screening programme in decreasing the hospitalization rate of patients with G6PD deficiency in southern Iran. J Med Screen. 2010;17(2):66-67.
11. Reclos GJ, Hatzidakis CJ, Schulpis KH. Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening. JMed Screen. 2000;7(1):46-51.
12. Iranpour R,HashemipourM, Talaei SM, et al.Newborn screening for glucose-6-phosphate dehydrogenase deficiency in Isfahan, Iran: a quantitative assay. JMed Screen. 2008;15(2):62-64.
13. Nantakomol D, Paul R, Palasuwan A, et al. Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency. Malar J. 2013;12(1):289. doi: 10.1186/1475-2875-12-289.