Association between G6PD, HMOX1 and BLVRA variants and severity of hyperbilirubinemia in northeastern Thai neonates
Neonatal hyperbilirubinemia is a common disorder that is associated with a variety of factors, especially genetic factors. This study aimed to examine the prevalence of G6PD, HMOX1 (GT-repeats) and BLVRA (rs699512; A>G) variants and their association with the severity of neonatal hyperbilirubinemia in northeastern Thai neonates. A total of 271 neonates with hyperbilirubinemia were analyzed for G6PDmutation, HMOX1 (GT-repeats) and BLVRA (rs699512; A>G) polymorphisms by multiplex AS-PCR, fragment analysis and PCR-RFLP, respectively. The prevalence of G6PD mutation, HMOX1 (short GT repeats) and BLVRA (rs699512; A>G) polymorphisms were found in 55.7%, 62.3% and 42.1% of subjects, respectively. The present study showed that the G6PD mutation, HMOX1 (< 23 GT-repeats) and BLVRA (rs699512; A>G) polymorphisms were significant risk factors for developing severe neonatal hyperbilirubinemia. Therefore, neonates with severe hyperbilirubinemia should be investigated for the G6PD mutation or HMOX1 (< 23 GT-repeats) or BLVRA (rs699512; A>G) polymorphisms.
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