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Publication
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| Research Title |
GENOTYPING OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY IN NORTHEASTERN THAI NEONATES WITH HYPERBILIRUBINEMIA |
| Date of Distribution |
18 June 2019 |
| Conference |
| Title of the Conference |
The 30th Annual Meeting of the European Society of Paediatric and Neonatal Intensive Care (ESPNIC 2019) |
| Organiser |
The European Society of Paediatric and Neonatal Intensive Care (ESPNIC 2019) |
| Conference Place |
Salzburg, Austria |
| Province/State |
Salzburg, Austria |
| Conference Date |
18 June 2019 |
| To |
20 June 2019 |
| Proceeding Paper |
| Volume |
30 |
| Issue |
0 |
| Page |
095 |
| Editors/edition/publisher |
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| Abstract |
Background: Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is the most common genetic enzyme disorder. The most devastating potential complication of G-6-PD deficiency in neonates is an acute hemolytic crisis which may result in severe hyperbilirubinemia and kernicterus. The molecular characterization of the G-6-PD mutations have been reported in various parts of Thailand. The objective of this study was to identify G-6-PD mutations in G-6-PD deficiency neonates at Srinagarind Hospital, Northeastern Thailand.
Methods: One hundred and four G-6-PD deficient neonates (58 males and 46 females) were subjected from routine screening for G-6-PD deficiency obtained from the Diagnostic Microscopy Unit, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University. Genomic DNA was extracted from peripheral blood leukocytes and investigated for molecular genotyping of G-6-PD mutations commonly found in Thailand (G-6-PD Viangchan, Canton, Union, Mahidol, Kaiping, Chiniese-4 and Chinese-5) by allele specific PCR. The PCR-RFLP were used to distinguish homozygous and heterozygous deficient females.
Results: The most common G-6-PD mutations were G-6-PD Viangchan 61 (58%), followed by G-6-PD Canton and Kaiping 14% and 12%, respectively. Other four G-6-PD mutations, G-6-PD Mahidol, Union, Chinese-5 and Chinese-4 were found with lower frequencies (5%, 4%, 3% and 2%, respectively).
Conclusion: This study demonstrated the molecular identification of G-6-PD mutations among northeastern Thai neonates and G-6-PD Viangchan was the most common mutation, consistent with previously reports from other parts of Thailand, PDR Lao and Cambodia. These finding reflect the common ancestral origin of the population and provide a basic knowledge and useful epidemiology of G-6-PD mutations in this populations. |
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| Peer Review Status |
มีผู้ประเมินอิสระ |
| Level of Conference |
นานาชาติ |
| Type of Proceeding |
Abstract |
| Type of Presentation |
Poster |
| Part of thesis |
true |
| Presentation awarding |
false |
| Attach file |
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| Citation |
0
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Journal Publication
ไทย