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Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.
MedLine Citation:
PMID:  25440321     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
INTRODUCTION: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is highly prevalent in southern China. The aim of this study is to assess the extent of this disease in Chinese neonates and determine its molecular characteristics using a novel molecular screening method.
METHODS: A total of 2500 neonates were routinely screened for G6PD deficiency using a modified fluorescent spot test (FST). PCR-high-resolution melting (HRM) analysis was then used for the molecular assay.
RESULTS: The overall incidence of G6PD deficiency was 2.68% in our study cohort. Frequency in male population was 3.22% (44 neonates of 1365 male neonates), and in female population was 2.03% (23 neonates of 1135 female neonates). Of the 67 newborns suspected to be G6PD deficient based on FST (44 males, 23 females), 58 of 67 (87%) were detected with gene alterations. Seven kinds of mutations [c.95A>G, c.392G>T, c.493A>G, c.871G>A, c.1360C>T, c.1376G>T, and c.1388G>A] were identified by HRM analysis.
CONCLUSION: Routine newborn screening in Chaozhou, China with a relatively high prevalence of G6PD deficiency is justified and meets the World Health Organization recommendation. The usage of molecular diagnosis can favor the detection of heterozygotes which can be a supplement to regular newborn screening and useful for premarital and prenatal diagnosis for G6PD deficiency.
Authors:
H Yang; Q Wang; L Zheng; X-F Zhan; M Lin; F Lin; X Tong; Z-Y Luo; Y Huang; L-Y Yang
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-12-1
Journal Detail:
Title:  International journal of laboratory hematology     Volume:  -     ISSN:  1751-553X     ISO Abbreviation:  Int J Lab Hematol     Publication Date:  2014 Dec 
Date Detail:
Created Date:  2014-12-2     Completed Date:  -     Revised Date:  2014-12-3    
Medline Journal Info:
Nlm Unique ID:  101300213     Medline TA:  Int J Lab Hematol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2014 John Wiley & Sons Ltd.
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