Abstract
Objective: Jaundice is a common disorder in neonates and G6PD deficiency could result in kernicterus. The aim of This study was to compare of G6PD mutation in icteric and non icteric neonates.
Methods: This case-control study was done in 50 icteric neonates with G6PD deficiency that needed phototherapy or exchange were selected as case group and 50 non icteric neonates with G6PD deficiency that were admitted to NICU and newborn ward with non icteric etiology were selected as control group.. 2 cc peripheral blood samples were collected in EDTA tube after obtaining parent consent.. G6PD deficiency was diagnosed with FST (Floorescent Spot Test) and billirubin was measured with DSA method. In first stept, all samples were evaluated for Mediterranean mutation and then negative samples were tested for Chatham mutation and finally all remaining samples were tested for Cosenza mutation.
Findings: In non icteric group 54% were Mediterranean, 18% Chatham, 28% Cosenza negative and in icteric group 56% were Mediterranean, 32% Chatham, 12% Cosenza negative and the distribution of Mediterranean and Chatham mutations were not significantly different between two groups (p>0.05) and distribution of rare mutations (Cosenza negative) was significantly different between icteric and non icteric group (p< 0.05). Exchange transfusion in neonates with chatham mutation was needed significantly less than photothrapy (p< 0.05).
Conclusion: Mediterranean mutation was the most frequent mutation in icteric and non icteric neonates of our region. but rare mutations (Cosenza negative) were more prevalent in non icteric group. Need to exchange transfusion was less in chatham mutation.
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Pasha, Z., Kacho, A., Van Niaky, A. et al. 284 Comparison of Molecular Mutations of G6Pd Gene Between Icteric and Non Icteric Neonates. Pediatr Res 68 (Suppl 1), 146 (2010). https://doi.org/10.1203/00006450-201011001-00284
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DOI: https://doi.org/10.1203/00006450-201011001-00284
